SCN5A c.2039G>A ;(p.R680H)

Variant ID: 3-38639443-C-T

NM_000335.4(SCN5A):c.2039G>A;(p.R680H)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Biomedicines
Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G
Publication Date: 2022-01-05

Variant appearance in text: SCN5A: R680h
PubMed Link: 35052786
Variant Present in the following documents:
  • biomedicines-10-00106.pdf
View BVdb publication page



Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Biomedicines
Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G
Publication Date: 2022-01-05

Variant appearance in text: SCN5A: R680h
PubMed Link: 35052786
Variant Present in the following documents:
  • biomedicines-10-00106.pdf
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: SCN5A: 2039G>A; R680H
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
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: R680H
PubMed Link: 33535892
Variant Present in the following documents:
  • Main text
  • KCHL_15_1875645.pdf
View BVdb publication page



Cannabinoid-Induced Brugada Syndrome: A Case Report.

Cureus
Stockholm, Scott C SC; Rosenblum, Adam A; Byrd, Alex A; Mery-Fernandez, Esteban E; Bhandari, Manoj M
Publication Date: 2020-06-14

Variant appearance in text: SCN5A: R680H
PubMed Link: 32550094
Variant Present in the following documents:
  • cureus-0012-00000008615.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: 2039G>A; R680H
PubMed Link: 32449611
Variant Present in the following documents:
  • MGG3-8-e1309-s002.xlsx, sheet 1
View BVdb publication page



Late Sodium Current Inhibitors as Potential Antiarrhythmic Agents.

Frontiers In Pharmacology
Horváth, Balázs B; Hézső, Tamás T; Kiss, Dénes D; Kistamás, Kornél K; Magyar, János J; Nánási, Péter P PP; Bányász, Tamás T
Publication Date: 2020

Variant appearance in text: Nav1.5: R680H
PubMed Link: 32372952
Variant Present in the following documents:
  • Main text
  • fphar-11-00413.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: 2039G>A; Arg680His; rs199473142
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
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: R680H
PubMed Link: 30143662
Variant Present in the following documents:
  • 41598_2018_30577_MOESM1_ESM.pdf
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: R680H
PubMed Link: 30079003
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: SCN5A: Arg680His
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: SCN5A: R680H
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Depolarization of the conductance-voltage relationship in the NaV1.5 mutant, E1784K, is due to altered fast inactivation.

Plos One
Peters, Colin H CH; Yu, Alec A; Zhu, Wandi W; Silva, Jonathan R JR; Ruben, Peter C PC
Publication Date: 2017

Variant appearance in text: SCN5A: R680H
PubMed Link: 28898267
Variant Present in the following documents:
  • pone.0184605.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: 2039G>A; Arg680His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: R680H
PubMed Link: 28316956
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: R680H
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



The biophysical characterization of the first SCN5A mutation R1512W identified in Chinese sudden unexplained nocturnal death syndrome.

Medicine
Zheng, Jinxiang J; Zhou, Feng F; Su, Terry T; Huang, Lei L; Wu, Yeda Y; Yin, Kun K; Wu, Qiuping Q; Tang, Shuangbo S; Makielski, Jonathan C JC; Cheng, Jianding J
Publication Date: 2016-06

Variant appearance in text: SCN5A: R680H
PubMed Link: 27281089
Variant Present in the following documents:
  • Main text
  • medi-95-e3836.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: LQT3: R680H
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: R680H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.

Plos One
Hu, Rou-Mu RM; Tan, Bi-Hua BH; Tester, David J DJ; Song, Chunhua C; He, Yang Y; Dovat, Sinisa S; Peterson, Blaise Z BZ; Ackerman, Michael J MJ; Makielski, Jonathan C JC
Publication Date: 2015

Variant appearance in text: SCN5A: R680H
PubMed Link: 25923670
Variant Present in the following documents:
  • Main text
  • pone.0124921.pdf
View BVdb publication page



Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10

Variant appearance in text: SCN5A: 2039G>A; Arg680His
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiac ion channelopathies and the sudden infant death syndrome.

Isrn Cardiology
Wilders, Ronald R
Publication Date: 2012

Variant appearance in text: SCN5A: R680H
PubMed Link: 23304551
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R680H
PubMed Link: 22947121
Variant Present in the following documents:
  • Main text
  • 2050-6511-13-6.pdf
View BVdb publication page



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: R680H
PubMed Link: 22677073
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative splicing of the cardiac sodium channel creates multiple variants of mutant T1620K channels.

Plos One
Walzik, Stefan S; Schroeter, Annett A; Benndorf, Klaus K; Zimmer, Thomas T
Publication Date: 2011-04-28

Variant appearance in text: SCN5A: R680H
PubMed Link: 21552533
Variant Present in the following documents:
  • Main text
  • pone.0019188.pdf
View BVdb publication page



The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current.

Physiological Genomics
Cheng, Jianding J; Tester, David J DJ; Tan, Bi-Hua BH; Valdivia, Carmen R CR; Kroboth, Stacie S; Ye, Bin B; January, Craig T CT; Ackerman, Michael J MJ; Makielski, Jonathan C JC
Publication Date: 2011-05-13

Variant appearance in text: SCN5A: R680H
PubMed Link: 21385947
Variant Present in the following documents:
  • Main text
View BVdb publication page



SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.

Clinical And Translational Science
Cheng, Jianding J; Morales, Ana A; Siegfried, Jill D JD; Li, Duanxiang D; Norton, Nadine N; Song, Junyao J; Gonzalez-Quintana, Jorge J; Makielski, Jonathan C JC; Hershberger, Ray E RE
Publication Date: 2010-12

Variant appearance in text: SCN5A: R680H
PubMed Link: 21167004
Variant Present in the following documents:
  • Main text
View BVdb publication page



A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.

Heart Rhythm
Shinlapawittayatorn, Krekwit K; Du, Xi X XX; Liu, Haiyan H; Ficker, Eckhard E; Kaufman, Elizabeth S ES; Deschênes, Isabelle I
Publication Date: 2011-03

Variant appearance in text: LQT3: R680H
PubMed Link: 21109022
Variant Present in the following documents:
  • Main text
View BVdb publication page