SCN5A c.1231G>A ;(p.V411M)

Variant ID: 3-38647549-C-T

NM_000335.4(SCN5A):c.1231G>A;(p.V411M)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


Novel insights in the pathomechanism of Brugada syndrome and fever-related type 1 ECG changes in a preclinical study using human-induced pluripotent stem cell-derived cardiomyocytes.

Clinical And Translational Medicine
Li, Yingrui Y; Dinkel, Hendrik H; Pakalniskyte, Dalia D; Busley, Alexandra Viktoria AV; Cyganek, Lukas L; Zhong, Rujia R; Zhang, Feng F; Xu, Qiang Q; Maywald, Lasse L; Aweimer, Assem A; Huang, Mengying M; Liao, Zhenxing Z; Meng, Zenghui Z; Yan, Chen C; Prädel, Timo T; Rose, Lena L; Moscu-Gregor, Alexander A; Hohn, Alyssa A; Yang, Zhen Z; Qiao, Lin L; Mügge, Andreas A; Zhou, Xiaobo X; Akin, Ibrahim I; El-Battrawy, Ibrahim I
Publication Date: 2023-03

Variant appearance in text: SCN5A: V411M
PubMed Link: 36881552
Variant Present in the following documents:
  • CTM2-13-e1130.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: SCN5A: 1231G>A; Val411Met
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Effects of Mexiletine on a Race-specific Mutation in Nav1.5 Associated With Long QT Syndrome.

Frontiers In Physiology
Wu, Xin X; Li, Yawei Y; Hong, Liang L
Publication Date: 2022

Variant appearance in text: Nav1.5: V411M
PubMed Link: 35864896
Variant Present in the following documents:
  • Main text
  • fphys-13-904664.pdf
View BVdb publication page



Editorial: Structure Related Druggability of Voltage-Gated Sodium and Calcium Ion-Channels to Treat Diseases.

Frontiers In Pharmacology
Gamal El-Din, Tamer M TM; Zimmer, Thomas T; Chahine, Mohamed M
Publication Date: 2022

Variant appearance in text: LQT3: V411M
PubMed Link: 35784759
Variant Present in the following documents:
  • Main text
  • fphar-13-947511.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: V411M
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



Peripartum management of patient with long QT3 after successful implantable cardioverter defibrillator device discharge resulting in device failure: a case report.

European Heart Journal. Case Reports
Lee, Melissa J MJ; Monteil, Danielle C DC; Spooner, Michael T MT
Publication Date: 2021-12

Variant appearance in text: SCN5A: Val411Met
PubMed Link: 34926986
Variant Present in the following documents:
  • Main text
  • ytab487.pdf
View BVdb publication page



Long QT syndrome - Bench to bedside.

Heart Rhythm O2
Ponce-Balbuena, Daniela D; Deschênes, Isabelle I
Publication Date: 2021-02

Variant appearance in text: LQT3: V411M
PubMed Link: 34113909
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Ranolazine as an Alternative Therapy to Flecainide for SCN5A V411M Long QT Syndrome Type 3 Patients.

Frontiers In Pharmacology
Cano, Jordi J; Zorio, Esther E; Mazzanti, Andrea A; Arnau, Miguel Ángel MÁ; Trenor, Beatriz B; Priori, Silvia G SG; Saiz, Javier J; Romero, Lucia L
Publication Date: 2020

Variant appearance in text: SCN5A: V411M
PubMed Link: 33519442
Variant Present in the following documents:
  • Main text
  • datasheet1.pdf
  • fphar-11-580481.pdf
View BVdb publication page



Subcutaneous and transvenous implantable cardioverter defibrillator in high-risk long-QT syndrome type 3 associated with Val411Met mutation in SCN5A.

Journal Of Cardiology Cases
Yokoyama, Yasuhiro Y; Aiba, Takeshi T; Ueda, Nobuhiko N; Nakajima, Kenzaburo K; Kamakura, Tsukasa T; Wada, Mitsuru M; Yamagata, Kenichiro K; Ishibashi, Kohei K; Inoue, Yuko Y; Miyamoto, Koji K; Nagase, Satoshi S; Noda, Takashi T; Yasuda, Satoshi S; Shimizu, Wataru W; Kusano, Kengo K
Publication Date: 2020-11

Variant appearance in text: SCN5A: 1231G>A
PubMed Link: 33133318
Variant Present in the following documents:
  • Main text
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: 1231G>A; Val411Met
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 12
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020

Variant appearance in text: SCN5A: V411M
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
View BVdb publication page



Reclassification of genetic variants in children with long QT syndrome.

Molecular Genetics & Genomic Medicine
Westphal, Dominik S DS; Burkard, Tobias T; Moscu-Gregor, Alexander A; Gebauer, Roman R; Hessling, Gabriele G; Wolf, Cordula M CM
Publication Date: 2020-09

Variant appearance in text: SCN5A: 1231G>A; Val411Met
PubMed Link: 32383558
Variant Present in the following documents:
  • MGG3-8-e1300-s001.xlsx, sheet 1
View BVdb publication page



An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.

Circulation
Adler, Arnon A; Novelli, Valeria V; Amin, Ahmad S AS; Abiusi, Emanuela E; Care, Melanie M; Nannenberg, Eline A EA; Feilotter, Harriet H; Amenta, Simona S; Mazza, Daniela D; Bikker, Hennie H; Sturm, Amy C AC; Garcia, John J; Ackerman, Michael J MJ; Hershberger, Raymond E RE; Perez, Marco V MV; Zareba, Wojciech W; Ware, James S JS; Wilde, Arthur A M AAM; Gollob, Michael H MH
Publication Date: 2020-02-11

Variant appearance in text: Nav1.5: V411M
PubMed Link: 31983240
Variant Present in the following documents:
  • cir-141-418-s001.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: SCN5A: 1231G>A; V411M
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Estimating dispensable content in the human interactome.

Nature Communications
Ghadie, Mohamed M; Xia, Yu Y
Publication Date: 2019-07-19

Variant appearance in text: SCN5A: 1231G>A; Val411Met
PubMed Link: 31324802
Variant Present in the following documents:
  • 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
  • 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: SCN5A: 1231G>A; Val411Met
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: SCN5A: V411M; rs72549410
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: V411M
PubMed Link: 30079003
Variant Present in the following documents:
  • Main text
  • jkms-33-e200.pdf
View BVdb publication page



The congenital long QT syndrome Type 3: An update.

Indian Pacing And Electrophysiology Journal
Pérez-Riera, Andrés Ricardo AR; Barbosa-Barros, Raimundo R; Daminello Raimundo, Rodrigo R; da Costa de Rezende Barbosa, Marianne Penachini MP; Esposito Sorpreso, Isabel Cristina IC; de Abreu, Luiz Carlos LC
Publication Date: 2018

Variant appearance in text: SCN5A: V411M
PubMed Link: 29101013
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A case of long QT syndrome: challenges on a bumpy road.

Clinical Case Reports
Magnusson, Peter P; Gustafsson, Per-Erik PE
Publication Date: 2017-06

Variant appearance in text: SCN5A: 1231G>A
PubMed Link: 28588847
Variant Present in the following documents:
  • Main text
  • CCR3-5-954.pdf
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: 1231G>A; Val411Met
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: V411M
PubMed Link: 28265756
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: LQT3: V411M
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

Indian Pacing And Electrophysiology Journal
Vyas, Bijal B; Puri, Ratna D RD; Namboodiri, Narayanan N; Saxena, Renu R; Nair, Mohan M; Balakrishnan, Prahlad P; Jayakrishnan, M P MP; Udyavar, Ameya A; Kishore, Ravi R; Verma, Ishwar C IC
Publication Date: 2016

Variant appearance in text: LQT3: V411M
PubMed Link: 27485560
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology
Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F
Publication Date: 2015

Variant appearance in text: Nav1.5: V411M
PubMed Link: 26834636
Variant Present in the following documents:
  • Main text
  • fphar-06-00314.pdf
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: SCN5A: V411M
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: V411M
PubMed Link: 26498160
Variant Present in the following documents:
  • Main text
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: V411M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Circulation. Cardiovascular Genetics
Kapplinger, Jamie D JD; Giudicessi, John R JR; Ye, Dan D; Tester, David J DJ; Callis, Thomas E TE; Valdivia, Carmen R CR; Makielski, Jonathan C JC; Wilde, Arthur A AA; Ackerman, Michael J MJ
Publication Date: 2015-08

Variant appearance in text: SCN5A: V411M
PubMed Link: 25904541
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.

Journal Of Interventional Cardiac Electrophysiology : An International Journal Of Arrhythmias And Pacing
Milanesi, Raffaella R; Bucchi, Annalisa A; Baruscotti, Mirko M
Publication Date: 2015-08

Variant appearance in text: SCN5A: V411M
PubMed Link: 25863800
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

Bmc Medical Genetics
Christiansen, Michael M; Hedley, Paula L PL; Theilade, Juliane J; Stoevring, Birgitte B; Leren, Trond P TP; Eschen, Ole O; Sørensen, Karina M KM; Tybjærg-Hansen, Anne A; Ousager, Lilian B LB; Pedersen, Lisbeth N LN; Frikke-Schmidt, Ruth R; Aidt, Frederik H FH; Hansen, Michael G MG; Hansen, Jim J; Bloch Thomsen, Poul E PE; Toft, Egon E; Henriksen, Finn L FL; Bundgaard, Henning H; Jensen, Henrik K HK; Kanters, Jørgen K JK
Publication Date: 2014-03-07

Variant appearance in text: SCN5A: 1231G>A; V411M
PubMed Link: 24606995
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-31.pdf
View BVdb publication page



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: V411M
PubMed Link: 23158531
Variant Present in the following documents:
  • Main text
View BVdb publication page



Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders
Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A
Publication Date: 2012-10-25

Variant appearance in text: SCN5A: 1231G>A; V411M
PubMed Link: 23098067
Variant Present in the following documents:
  • Main text
  • 1471-2261-12-95.pdf
View BVdb publication page



Cardiac sodium channel Nav1.5 mutations and cardiac arrhythmia.

Pediatric Cardiology
Song, Weihua W; Shou, Weinian W
Publication Date: 2012-08

Variant appearance in text: Nav1.5: V411M
PubMed Link: 22460359
Variant Present in the following documents:
  • Main text
View BVdb publication page