SCN5A c.647C>T ;(p.S216L)

Variant ID: 3-38655290-G-A

NM_000335.4(SCN5A):c.647C>T;(p.S216L)

This variant was identified in 55 publications

View GRCh38 version.




Publications:


Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27

Variant appearance in text: SCN5A: 647C>T; rs41276525
PubMed Link: 36973604
Variant Present in the following documents:
  • 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: SCN5A: S216L
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.

Frontiers In Genetics
Martone, Stefania S; Buonagura, Autilia Tommasina AT; Marra, Roberta R; Rosato, Barbara Eleni BE; Del Giudice, Federica F; Bonfiglio, Ferdinando F; Capasso, Mario M; Iolascon, Achille A; Andolfo, Immacolata I; Russo, Roberta R
Publication Date: 2022

Variant appearance in text: SCN5A: S216L; rs41276525
PubMed Link: 36437915
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: SCN5A: S216L
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Cardiac-targeted PIASy gene silencing mediates deSUMOylation of caveolin-3 and prevents ischemia/reperfusion-induced Nav1.5 downregulation and ventricular arrhythmias.

Military Medical Research
Hu, Chen-Chen CC; Wei, Xin X; Liu, Jin-Min JM; Han, Lin-Lin LL; Xia, Cheng-Kun CK; Wu, Jing J; You, Tao T; Zhu, A-Fang AF; Yao, Shang-Long SL; Yuan, Shi-Ying SY; Xu, Hao-Dong HD; Xia, Zheng-Yuan ZY; Wang, Ting-Ting TT; Mao, Wei-Ke WK
Publication Date: 2022-10-14

Variant appearance in text: Nav1.5: S216L
PubMed Link: 36229865
Variant Present in the following documents:
  • 40779_2022_Article_415.pdf
View BVdb publication page



Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na 1.5).

Peerj
Lopes-Marques, Monica M; Silva, Raquel R; Serrano, Catarina C; Gomes, Verónica V; Cardoso, Ana A; Prata, Maria João MJ; Amorim, Antonio A; Azevedo, Luisa L
Publication Date: 2022

Variant appearance in text: SCN5A: Ser216Leu; rs41276525
PubMed Link: 35996667
Variant Present in the following documents:
  • Main text
  • peerj-10-13913.pdf
View BVdb publication page



Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations.

Frontiers In Genetics
Tian, Shulan S; Tu, Zheng Jin ZJ; Yan, Huihuang H; Klee, Eric W EW
Publication Date: 2022

Variant appearance in text: SCN5A: 647C>T; S216L
PubMed Link: 35432455
Variant Present in the following documents:
  • Main text
  • fgene-13-896032.pdf
View BVdb publication page



Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: SCN5A: S216L
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A: A Potential Source of Misinterpretation.

Frontiers In Genetics
Shestak, Anna G AG; Makarov, Leonid M LM; Komoliatova, Vera N VN; Kolesnikova, Irina V IV; Skorodumova, Liubov O LO; Generozov, Edward V EV; Zaklyazminskaya, Elena V EV
Publication Date: 2021

Variant appearance in text: SCN5A: 647C>T; S216L; rs41276525
PubMed Link: 34552620
Variant Present in the following documents:
  • Main text
  • fgene-12-722291.pdf
View BVdb publication page



A Heart Failure-Associated SCN5A Splice Variant Leads to a Reduction in Sodium Current Through Coupled-Gating With the Wild-Type Channel.

Frontiers In Physiology
Zheng, Yang Y; Wan, Xiaoping X; Yang, Dandan D; Ramirez-Navarro, Angelina A; Liu, Haiyan H; Fu, Ji-Dong JD; Deschênes, Isabelle I
Publication Date: 2021

Variant appearance in text: SCN5A: S216L
PubMed Link: 33828490
Variant Present in the following documents:
  • fphys-12-661429.pdf
View BVdb publication page



Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R.

Channels (Austin, Tex.)
Hu, Rou-Mu RM; Song, Evelyn J EJ; Tester, David J DJ; Deschenes, Isabelle I; Ackerman, Michael J MJ; Makielski, Jonathan C JC; Tan, Bi-Hua BH
Publication Date: 2021-12

Variant appearance in text: SCN5A: S216L
PubMed Link: 33535892
Variant Present in the following documents:
  • KCHL_15_1875645.pdf
View BVdb publication page



Life Cycle of the Cardiac Voltage-Gated Sodium Channel NaV1.5.

Frontiers In Physiology
Dong, Caijuan C; Wang, Ya Y; Ma, Aiqun A; Wang, Tingzhong T
Publication Date: 2020

Variant appearance in text: SCN5A: S216L
PubMed Link: 33391024
Variant Present in the following documents:
  • Main text
  • fphys-11-609733.pdf
View BVdb publication page



Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg
Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS
Publication Date: 2021-07

Variant appearance in text: SCN5A: 647C>T; Ser216Leu
PubMed Link: 33279945
Variant Present in the following documents:
  • 41431_2020_784_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR
Publication Date: 2021-01

Variant appearance in text: SCN5A: 647C>T
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 12
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 13
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues.

The Journal Of Innovations In Cardiac Rhythm Management
Hylind, Robyn J RJ; Chandler, Stephanie F SF; Skinner, Jonathan R JR; Abrams, Dominic J DJ
Publication Date: 2018-11

Variant appearance in text: SCN5A: S216L
PubMed Link: 32494476
Variant Present in the following documents:
  • Main text
  • icrm-09-3406.pdf
View BVdb publication page



The role of sodium channels in sudden unexpected death in pediatrics.

Molecular Genetics & Genomic Medicine
Rochtus, Anne M AM; Goldstein, Richard D RD; Holm, Ingrid A IA; Brownstein, Catherine A CA; Pérez-Palma, Eduardo E; Haynes, Robin R; Lal, Dennis D; Poduri, Annapurna H AH
Publication Date: 2020-08

Variant appearance in text: SCN5A: 647C>T; S216L
PubMed Link: 32449611
Variant Present in the following documents:
  • MGG3-8-e1309-s002.xlsx, sheet 2
  • MGG3-8-e1309-s002.xlsx, sheet 1
View BVdb publication page



Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot.

Frontiers In Cardiovascular Medicine
Leonard, Riley J RJ; Preston, Claudia C CC; Gucwa, Melanie E ME; Afeworki, Yohannes Y; Selya, Arielle S AS; Faustino, Randolph S RS
Publication Date: 2020

Variant appearance in text: SCN5A: S216L
PubMed Link: 32118046
Variant Present in the following documents:
  • Main text
  • fcvm-07-00008.pdf
View BVdb publication page



Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.

European Journal Of Human Genetics : Ejhg
Paludan-Müller, Christian C; Ghouse, Jonas J; Vad, Oliver B OB; Herfelt, Cecilie B CB; Lundegaard, Pia P; Ahlberg, Gustav G; Schmitt, Nicole N; Svendsen, Jesper H JH; Haunsø, Stig S; Bundgaard, Henning H; Hansen, Torben T; Kanters, Jørgen K JK; Olesen, Morten S MS
Publication Date: 2019-09

Variant appearance in text: SCN5A: Ser216Leu; rs41276525
PubMed Link: 31043699
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I
Publication Date: 2019-06

Variant appearance in text: SCN5A: 647C>T; Ser216Leu; rs41276525
PubMed Link: 30847666
Variant Present in the following documents:
  • 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Multiple mechanisms underlie increased cardiac late sodium current.

Heart Rhythm
Kroncke, Brett M BM; Yang, Tao T; Roden, Dan M DM
Publication Date: 2019-07

Variant appearance in text: LQT3: S216L
PubMed Link: 30677491
Variant Present in the following documents:
  • Main text
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: SCN5A: S216L; rs41276525
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



A New Cardiac Channelopathy: From Clinical Phenotypes to Molecular Mechanisms Associated With Nav1.5 Gating Pores.

Frontiers In Cardiovascular Medicine
Moreau, Adrien A; Chahine, Mohamed M
Publication Date: 2018

Variant appearance in text: LQT3: S216L
PubMed Link: 30356750
Variant Present in the following documents:
  • Main text
View BVdb publication page



Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science
Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH
Publication Date: 2018-08-06

Variant appearance in text: SCN5A: S216L
PubMed Link: 30079003
Variant Present in the following documents:
  • Main text
  • jkms-33-e200.pdf
View BVdb publication page



Dysfunctional Nav1.5 channels due to SCN5A mutations.

Experimental Biology And Medicine (Maywood, N.J.)
Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G
Publication Date: 2018-06

Variant appearance in text: LQT3: S216L
PubMed Link: 29806494
Variant Present in the following documents:
  • Main text
View BVdb publication page



Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.

Plos One
Marcondes, Luciana L; Crawford, Jackie J; Earle, Nikki N; Smith, Warren W; Hayes, Ian I; Morrow, Paul P; Donoghue, Tom T; Graham, Amanda A; Love, Donald D; Skinner, Jonathan R JR; ,
Publication Date: 2018

Variant appearance in text: SCN5A: 647C>T; S216L
PubMed Link: 29672598
Variant Present in the following documents:
  • Main text
  • pone.0196078.pdf
View BVdb publication page



Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget
Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X
Publication Date: 2017-09-26

Variant appearance in text: SCN5A: S216L
PubMed Link: 29088863
Variant Present in the following documents:
  • oncotarget-08-75264-s003.xls, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: SCN5A: 647C>T; Ser216Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Obscurin variants and inherited cardiomyopathies.

Biophysical Reviews
Marston, Steven S
Publication Date: 2017-06

Variant appearance in text: SCN5A: S216L
PubMed Link: 28510120
Variant Present in the following documents:
  • Main text
  • 12551_2017_Article_264.pdf
View BVdb publication page



Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Journal Of Biological Research (Thessalonike, Greece)
Ioakeimidis, Nikolaos S NS; Papamitsou, Theodora T; Meditskou, Soultana S; Iakovidou-Kritsi, Zafiroula Z
Publication Date: 2017-12

Variant appearance in text: SCN5A: S216L
PubMed Link: 28316956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sodium channel biophysics, late sodium current and genetic arrhythmic syndromes.

Pflugers Archiv : European Journal Of Physiology
Chadda, Karan R KR; Jeevaratnam, Kamalan K; Lei, Ming M; Huang, Christopher L-H CL
Publication Date: 2017-06

Variant appearance in text: SCN5A: S216L
PubMed Link: 28265756
Variant Present in the following documents:
  • Main text
  • 424_2017_Article_1959.pdf
View BVdb publication page



Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.

International Journal Of Molecular Medicine
Zhao, Yue Y; Cao, Hong H; Song, Yindi Y; Feng, Yue Y; Ding, Xiaoxue X; Pang, Mingjie M; Zhang, Yunmei Y; Zhang, Hong H; Ding, Jiahuan J; Xia, Xueshan X
Publication Date: 2016-06

Variant appearance in text: SCN5A: S216L
PubMed Link: 27082122
Variant Present in the following documents:
  • ijmm-37-06-1511.pdf
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: SCN5A: S216L; rs41276525
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 7
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: LQT3: S216L; rs41276525
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

Europace : European Pacing, Arrhythmias, And Cardiac Electrophysiology : Journal Of The Working Groups On Cardiac Pacing, Arrhythmias, And Cardiac Cellular Electrophysiology Of The European Society Of Cardiology
Nunn, Laurence M LM; Lopes, Luis R LR; Syrris, Petros P; Murphy, Cian C; Plagnol, Vincent V; Firman, Eileen E; Dalageorgou, Chrysoula C; Zorio, Esther E; Domingo, Diana D; Murday, Victoria V; Findlay, Iain I; Duncan, Alexis A; Carr-White, Gerry G; Robert, Leema L; Bueser, Teofila T; Langman, Caroline C; Fynn, Simon P SP; Goddard, Martin M; White, Anne A; Bundgaard, Henning H; Ferrero-Miliani, Laura L; Wheeldon, Nigel N; Suvarna, Simon K SK; O'Beirne, Aliceson A; Lowe, Martin D MD; McKenna, William J WJ; Elliott, Perry M PM; Lambiase, Pier D PD
Publication Date: 2016-06

Variant appearance in text: SCN5A: S216L
PubMed Link: 26498160
Variant Present in the following documents:
  • Main text
View BVdb publication page



OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.

Plos One
Marston, Steven S; Montgiraud, Cecile C; Munster, Alex B AB; Copeland, O'Neal O; Choi, Onjee O; Dos Remedios, Cristobal C; Messer, Andrew E AE; Ehler, Elisabeth E; Knöll, Ralph R
Publication Date: 2015

Variant appearance in text: SCN5A: S216L
PubMed Link: 26406308
Variant Present in the following documents:
  • Main text
  • pone.0138568.s001.pdf
  • pone.0138568.pdf
View BVdb publication page



ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.

Genome Medicine
Wang, Jinlian J; Liao, Jun J; Zhang, Jinglan J; Cheng, Wei-Yi WY; Hakenberg, Jörg J; Ma, Meng M; Webb, Bryn D BD; Ramasamudram-Chakravarthi, Rajasekar R; Karger, Lisa L; Mehta, Lakshmi L; Kornreich, Ruth R; Diaz, George A GA; Li, Shuyu S; Edelmann, Lisa L; Chen, Rong R
Publication Date: 2015-07-29

Variant appearance in text: SCN5A: 647C>T; S216L
PubMed Link: 26338694
Variant Present in the following documents:
  • 13073_2015_207_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SCN5A: S216L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: a cautionary note.

Circulation. Cardiovascular Genetics
Weeke, Peter P; Denny, Joshua C JC; Basterache, Lisa L; Shaffer, Christian C; Bowton, Erica E; Ingram, Christie C; Darbar, Dawood D; Roden, Dan M DM
Publication Date: 2015-02

Variant appearance in text: SCN5A: Ser216Leu
PubMed Link: 25410959
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biophysics, pathophysiology, and pharmacology of ion channel gating pores.

Frontiers In Pharmacology
Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Chahine, Mohamed M
Publication Date: 2014

Variant appearance in text: SCN5A: S216L
PubMed Link: 24772081
Variant Present in the following documents:
  • Main text
  • fphar-05-00053.pdf
View BVdb publication page



Brugada syndrome risk loci seem protective against atrial fibrillation.

European Journal Of Human Genetics : Ejhg
Andreasen, Laura L; Nielsen, Jonas B JB; Darkner, Stine S; Christophersen, Ingrid E IE; Jabbari, Javad J; Refsgaard, Lena L; Thiis, Jens J JJ; Sajadieh, Ahmad A; Tveit, Arnljot A; Haunsø, Stig S; Svendsen, Jesper H JH; Schmitt, Nicole N; Olesen, Morten S MS
Publication Date: 2014-12

Variant appearance in text: SCN5A: Ser216Leu
PubMed Link: 24667784
Variant Present in the following documents:
  • Main text
View BVdb publication page



Atrial fibrillation: the role of common and rare genetic variants.

European Journal Of Human Genetics : Ejhg
Olesen, Morten S MS; Nielsen, Morten W MW; Haunsø, Stig S; Svendsen, Jesper H JH
Publication Date: 2014-03

Variant appearance in text: SCN5A: 647C>T; Ser216Leu
PubMed Link: 23838598
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Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.

European Journal Of Human Genetics : Ejhg
Sommariva, Elena E; Pappone, Carlo C; Martinelli Boneschi, Filippo F; Di Resta, Chiara C; Rosaria Carbone, Maria M; Salvi, Erika E; Vergara, Pasquale P; Sala, Simone S; Cusi, Daniele D; Ferrari, Maurizio M; Benedetti, Sara S
Publication Date: 2013-09

Variant appearance in text: SCN5A: 647C>T
PubMed Link: 23321620
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  • Main text
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Cardiac ion channelopathies and the sudden infant death syndrome.

Isrn Cardiology
Wilders, Ronald R
Publication Date: 2012

Variant appearance in text: SCN5A: S216L
PubMed Link: 23304551
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Sudden intrauterine unexplained death: time for change.

Journal Of Prenatal Medicine
Giorlandino, Claudio C; Mesoraca, Alvaro A; Cignini, Pietro P
Publication Date: 2012-10

Variant appearance in text: SCN5A: S216L
PubMed Link: 23272275
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  • Main text
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Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

Journal Of The American College Of Cardiology
Crotti, Lia L; Spazzolini, Carla C; Porretta, Alessandra P AP; Dagradi, Federica F; Taravelli, Erika E; Petracci, Barbara B; Vicentini, Alessandro A; Pedrazzini, Matteo M; La Rovere, Maria Teresa MT; Vanoli, Emilio E; Goosen, Althea A; Heradien, Marshall M; George, Alfred L AL; Brink, Paul A PA; Schwartz, Peter J PJ
Publication Date: 2012-12-18

Variant appearance in text: SCN5A: S216L
PubMed Link: 23158531
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Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Bmc Pharmacology & Toxicology
Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M
Publication Date: 2012-08-13

Variant appearance in text: SCN5A: S216L
PubMed Link: 22947121
Variant Present in the following documents:
  • Main text
  • 2050-6511-13-6.pdf
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Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

Journal Of The American College Of Cardiology
Crotti, Lia L; Marcou, Cherisse A CA; Tester, David J DJ; Castelletti, Silvia S; Giudicessi, John R JR; Torchio, Margherita M; Medeiros-Domingo, Argelia A; Simone, Savastano S; Will, Melissa L ML; Dagradi, Federica F; Schwartz, Peter J PJ; Ackerman, Michael J MJ
Publication Date: 2012-10-09

Variant appearance in text: SCN5A: S216L
PubMed Link: 22840528
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Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Mayo Clinic Proceedings
Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Haglund, Carla M CM; Ackerman, Michael J MJ
Publication Date: 2012-06

Variant appearance in text: SCN5A: S216L
PubMed Link: 22677073
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High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

European Journal Of Human Genetics : Ejhg
Refsgaard, Lena L; Holst, Anders G AG; Sadjadieh, Golnaz G; Haunsø, Stig S; Nielsen, Jonas B JB; Olesen, Morten S MS
Publication Date: 2012-08

Variant appearance in text: SCN5A: S216L; rs41276525
PubMed Link: 22378279
Variant Present in the following documents:
  • Main text
  • ejhg201223a.pdf
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Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

Circulation. Cardiovascular Genetics
Norton, Nadine N; Robertson, Peggy D PD; Rieder, Mark J MJ; Züchner, Stephan S; Rampersaud, Evadnie E; Martin, Eden E; Li, Duanxiang D; Nickerson, Deborah A DA; Hershberger, Ray E RE; ,
Publication Date: 2012-04-01

Variant appearance in text: SCN5A: Ser216Leu; rs41276525
PubMed Link: 22337857
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Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A.

Canadian Journal Of Physiology And Pharmacology
Calloe, Kirstine K; Schmitt, Nicole N; Grubb, Soren S; Pfeiffer, Ryan R; David, Jens-Peter JP; Kanter, Ronald R; Cordeiro, Jonathan M JM; Antzelevitch, Charles C
Publication Date: 2011-10

Variant appearance in text: LQT3: S216L
PubMed Link: 21895525
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In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

Genomic Medicine
Sudandiradoss, C C; Sethumadhavan, Rao R
Publication Date: 2008-12

Variant appearance in text: rs41276525
PubMed Link: 19214780
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Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.

Circulation
Darbar, Dawood D; Kannankeril, Prince J PJ; Donahue, Brian S BS; Kucera, Gayle G; Stubblefield, Tanya T; Haines, Jonathan L JL; George, Alfred L AL; Roden, Dan M DM
Publication Date: 2008-04-15

Variant appearance in text: SCN5A: S216L
PubMed Link: 18378609
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