SCN5A c.892G>A ;(p.G298S)

Variant ID: 3-38651267-C-T

NM_000335.4(SCN5A):c.892G>A;(p.G298S)

This variant was identified in 33 publications

View GRCh38 version.




Publications:


Salivary gland cancer organoids are valid for preclinical genotype-oriented medical precision trials.

Iscience
Ishikawa, Tomohiko T; Ogawa, Takenori T; Shiihara, Masahiro M; Usubuchi, Hajime H; Omori, Yuko Y; Hirose, Katsuya K; Itoh, Taito T; Yoshida, Takuya T; Nakanome, Ayako A; Okoshi, Akira A; Higashi, Kenjiro K; Ishii, Ryo R; Rokugo, Masahiro M; Wakamori, Shun S; Okamura, Yasunobu Y; Kinoshita, Kengo K; Katori, Yukio Y; Furukawa, Toru T
Publication Date: 2023-05-19

Variant appearance in text: SCN5A: 892G>A
PubMed Link: 37207275
Variant Present in the following documents:
  • mmc10.xlsx, sheet 1
View BVdb publication page



Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Journal Of The American Heart Association
Yang, Qixin Q; Berkman, Amy M AM; Ezekian, Jordan E JE; Rosamilia, Michael M; Rosenfeld, Jill A JA; Liu, Pengfei P; Landstrom, Andrew P AP
Publication Date: 2022-10-04

Variant appearance in text: SCN5A: 892G>A; G298S
PubMed Link: 36129056
Variant Present in the following documents:
  • JAH3-11-e025257-s001.pdf
  • JAH3-11-e025257.pdf
View BVdb publication page



Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2022-08-30

Variant appearance in text: SCN5A: 892G>A; Gly298Ser; rs137854608
PubMed Link: 36042188
Variant Present in the following documents:
  • 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: SCN5A: 892G>A; Gly298Ser
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs137854608
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs137854608
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Molecular Therapy. Nucleic Acids
Song, Libin L; Qi, Simin S; Hu, Wei W; Fang, Zhixiao Z; Yu, Dehua D; Liu, Teng T; Wu, Jingni J; Wu, Yangjun Y; Wu, Aiwei A; Feng, Lanyun L; Xie, Jing J; Zhang, Bo B; He, Wenguang W; Ning, Zhouyu Z; Liu, Luming L; Qin, Jiang-Jiang JJ; Li, Shengli S
Publication Date: 2021-12-03

Variant appearance in text: SCN5A: 892G>A; G298S; rs137854608
PubMed Link: 34513290
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Evidence-based clinical practice guidelines for irritable bowel syndrome 2020.

Journal Of Gastroenterology
Fukudo, Shin S; Okumura, Toshikatsu T; Inamori, Masahiko M; Okuyama, Yusuke Y; Kanazawa, Motoyori M; Kamiya, Takeshi T; Sato, Ken K; Shiotani, Akiko A; Naito, Yuji Y; Fujikawa, Yoshiko Y; Hokari, Ryota R; Masaoka, Tastuhiro T; Fujimoto, Kazuma K; Kaneko, Hiroshi H; Torii, Akira A; Matsueda, Kei K; Miwa, Hiroto H; Enomoto, Nobuyuki N; Shimosegawa, Tooru T; Koike, Kazuhiko K
Publication Date: 2021-03

Variant appearance in text: Nav1.5: G298S
PubMed Link: 33538894
Variant Present in the following documents:
  • Main text
  • 535_2020_Article_1746.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: SCN5A: 892G>A; Gly298Ser; rs137854608
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation
Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R
Publication Date: 2020-02-04

Variant appearance in text: SCN5A: 892G>A; Gly298Ser
PubMed Link: 31983221
Variant Present in the following documents:
  • cir-141-387-s002.xlsx, sheet 3
View BVdb publication page



SCN5A mutation G615E results in NaV1.5 voltage-gated sodium channels with normal voltage-dependent function yet loss of mechanosensitivity.

Channels (Austin, Tex.)
Strege, Peter R PR; Mercado-Perez, Arnaldo A; Mazzone, Amelia A; Saito, Yuri A YA; Bernard, Cheryl E CE; Farrugia, Gianrico G; Beyder, Arthur A
Publication Date: 2019-12

Variant appearance in text: SCN5A: G298S
PubMed Link: 31262209
Variant Present in the following documents:
  • Main text
  • kchl-13-01-1632670.pdf
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: G298S; rs137854608
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



SCN5A Variants: Association With Cardiac Disorders.

Frontiers In Physiology
Li, Wenjia W; Yin, Lei L; Shen, Cheng C; Hu, Kai K; Ge, Junbo J; Sun, Aijun A
Publication Date: 2018

Variant appearance in text: LQT3: 892G>A
PubMed Link: 30364184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports
Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA
Publication Date: 2018-08-24

Variant appearance in text: SCN5A: G298S
PubMed Link: 30143662
Variant Present in the following documents:
  • 41598_2018_30577_MOESM1_ESM.pdf
View BVdb publication page



Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased NaV1.5 current and mechanosensitivity.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
Strege, Peter R PR; Mazzone, Amelia A; Bernard, Cheryl E CE; Neshatian, Leila L; Gibbons, Simon J SJ; Saito, Yuri A YA; Tester, David J DJ; Calvert, Melissa L ML; Mayer, Emeran A EA; Chang, Lin L; Ackerman, Michael J MJ; Beyder, Arthur A; Farrugia, Gianrico G
Publication Date: 2018-04-01

Variant appearance in text: SCN5A: G298S
PubMed Link: 29167113
Variant Present in the following documents:
  • Main text
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: SCN5A: G298S
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
  • emm2017142x5.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: 892G>A; Gly298Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: G298S
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: SCN5A: 892G>A; G298S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: G298S
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Mutational analysis of SCN5A gene in long QT syndrome.

Meta Gene
Qureshi, Sameera Fatima SF; Ali, Altaf A; John, Princy P; Jadhav, Amol P AP; Venkateshwari, Ananthapur A; Rao, Hygriv H; Jayakrishnan, M P MP; Narasimhan, Calambur C; Shenthar, Jayaprakash J; Thangaraj, Kumarasamy K; Nallari, Pratibha P
Publication Date: 2015-12

Variant appearance in text: SCN5A: G298S
PubMed Link: 26401487
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: G298S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
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: G298S
PubMed Link: 25863800
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of human gastrointestinal sensation.

Neurogastroenterology And Motility : The Official Journal Of The European Gastrointestinal Motility Society
Camilleri, M M
Publication Date: 2013-06

Variant appearance in text: SCN5A: G298S
PubMed Link: 23594334
Variant Present in the following documents:
  • Main text
View BVdb publication page



Irritable bowel syndrome: methods, mechanisms, and pathophysiology. Genetic epidemiology and pharmacogenetics in irritable bowel syndrome.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
Camilleri, Michael M; Katzka, David A DA
Publication Date: 2012-05-15

Variant appearance in text: SCN5A: G298S
PubMed Link: 22403795
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Relationship Between Gastric Myoelectric Activity and SCN5A Mutation Suggesting Sodium Channelopathy in Patients With Brugada Syndrome and Functional Dyspepsia - A Pilot Study.

Journal Of Neurogastroenterology And Motility
Jung, Kyo Tae KT; Park, Hyojin H; Kim, Jie-Hyun JH; Shin, Dong-Jik DJ; Joung, Bo Young BY; Lee, Moon-Hyoung MH; Jang, Yang Soo YS
Publication Date: 2012-01

Variant appearance in text: SCN5A: G298S
PubMed Link: 22323988
Variant Present in the following documents:
  • Main text
  • jnm-18-58.pdf
View BVdb publication page



The role of genetics in IBS.

Gastroenterology Clinics Of North America
Saito, Yuri A YA
Publication Date: 2011-03

Variant appearance in text: SCN5A: G298S
PubMed Link: 21333900
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pain as a channelopathy.

The Journal Of Clinical Investigation
Raouf, Ramin R; Quick, Kathryn K; Wood, John N JN
Publication Date: 2010-11

Variant appearance in text: SCN5A: G298S
PubMed Link: 21041956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanosensitivity of Nav1.5, a voltage-sensitive sodium channel.

The Journal Of Physiology
Beyder, Arthur A; Rae, James L JL; Bernard, Cheryl C; Strege, Peter R PR; Sachs, Frederick F; Farrugia, Gianrico G
Publication Date: 2010-12-15

Variant appearance in text: LQT3: G298S
PubMed Link: 21041530
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic approaches to functional gastrointestinal disorders.

Gastroenterology
Saito, Yuri A YA; Mitra, Nandita N; Mayer, Emeran A EA
Publication Date: 2010-04

Variant appearance in text: SCN5A: G298S
PubMed Link: 20176021
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics and irritable bowel syndrome: from genomics to intermediate phenotype and pharmacogenetics.

Digestive Diseases And Sciences
Camilleri, Michael M
Publication Date: 2009-11

Variant appearance in text: SCN5A: G298S
PubMed Link: 19655247
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
Saito, Yuri A YA; Strege, Peter R PR; Tester, David J DJ; Locke, G Richard GR; Talley, Nicholas J NJ; Bernard, Cheryl E CE; Rae, James L JL; Makielski, Jonathan C JC; Ackerman, Michael J MJ; Farrugia, Gianrico G
Publication Date: 2009-02

Variant appearance in text: SCN5A: G298S
PubMed Link: 19056759
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited disorders of voltage-gated sodium channels.

The Journal Of Clinical Investigation
George, Alfred L AL
Publication Date: 2005-08

Variant appearance in text: SCN5A: G298S
PubMed Link: 16075039
Variant Present in the following documents:
  • Main text
View BVdb publication page