Gene: SCN5A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1805124
rs1805124
SCN5A
0.040 GeneticVariation BEFREE H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters. 29202755

2017
dbSNP: rs137854613
rs137854613
SCN5A
0.010 GeneticVariation BEFREE Readthrough of SCN5A Nonsense Mutations p.R1623X and p.S1812X Questions Gene-therapy in Brugada Syndrome. 28552050

2017
dbSNP: rs199473320
rs199473320
SCN5A
0.010 GeneticVariation BEFREE The first variant is a missense mutation, resulting in an amino acid change (Q1832E), which has been described (but not characterized) in a patient with Brugada syndrome. 28370132

2017
dbSNP: rs137854601
rs137854601
SCN5A
0.720 GeneticVariation BEFREE We demonstrate a strong genotype-phenotype correlation with complete penetrance for BrS, LQTS, or CCD in the largest family harboring SCN5A-E1784K mutation described so far. 27381756

2016
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation. 27930701

2016
dbSNP: rs794728849
rs794728849
SCN5A
A 0.710 CausalMutation CLINVAR p.Gln1507-Lys1508-Pro1509del mutation, p.Arg222Ter nonsense mutation, and p.Met1498Arg in LQTS, BrS, and SSS, respectively, are reported for the first time in the Iranian population. 26467377

2016
dbSNP: rs794728849
rs794728849
SCN5A
A 0.710 CausalMutation CLINVAR However, the SCN5A variants R568H and A993T can be classified as pathogenic LQTS3 causing mutations, while R222stop and R2012H are novel BrS causing mutations. 27287068

2016
dbSNP: rs794728849
rs794728849
SCN5A
0.710 GeneticVariation BEFREE Eleven members of the LQTS family (39%) showed p.Gln1507-Lys1508-Pro1509del mutation, 8 of BrS family (50%) showed p.Arg222Ter nonsense mutation, and 5 of 9 SSS family members (55%) showed a novel p.Met1498Arg mutation in the SCN5A gene. 26467377

2016
dbSNP: rs137854604
rs137854604
SCN5A
A 0.700 GeneticVariation CLINVAR Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome. 26798387

2016
dbSNP: rs199473284
rs199473284
SCN5A
A 0.700 CausalMutation CLINVAR The proband had a baseline electrocardiogram that showed Type 2 BrS changes, which escalated to a characteristic Type I BrS pattern during a treadmill test before polymorphic ventricular tachycardia onset at a cycle length of 250 ms. Mutational analysis across all 29 exons in SCN5A of the proband and first-degree relatives of the family revealed that the proband inherited a compound heterozygote mutation in SCN5A, specifically p.A226V and p.R1629X from each parent. 25829473

2016
dbSNP: rs878855292
rs878855292
SCN5A
0.030 GeneticVariation BEFREE An R1632C variant in the SCN5A gene causing Brugada syndrome. 27082542

2016
dbSNP: rs1060499900
rs1060499900
SCN5A
0.020 GeneticVariation BEFREE Thus, the mutant‑induced changes contributed to the loss of function of Nav1.5 channels, which indicates that the p.D1690N variant may have a pathogenic role in BrS. 27108952

2016
dbSNP: rs137854602
rs137854602
SCN5A
0.020 GeneticVariation BEFREE This initial functional study for SCN5A mutation in the Chinese SUNDS victim revealed that the acidosis aggravated the loss of function of mutant channel R1512W and suggested that nocturnal sleep disorders-associated slight acidosis may trigger the lethal arrhythmia underlying the sudden death of SUNDS cases in the setting of genetic defect. 27281089

2016
dbSNP: rs199473561
rs199473561
SCN5A
0.010 GeneticVariation BEFREE The proband had a baseline electrocardiogram that showed Type 2 BrS changes, which escalated to a characteristic Type I BrS pattern during a treadmill test before polymorphic ventricular tachycardia onset at a cycle length of 250 ms. Mutational analysis across all 29 exons in SCN5A of the proband and first-degree relatives of the family revealed that the proband inherited a compound heterozygote mutation in SCN5A, specifically p.A226V and p.R1629X from each parent. 25829473

2016
dbSNP: rs374268607
rs374268607
SCN5A
0.010 GeneticVariation BEFREE Our study suggests that a subclinical SCN5A mutation, p.V1328M, might predispose individuals harboring it to drug-induced Brugada Syndrome. 27560382

2016
dbSNP: rs774244998
rs774244998
SCN5A
0.010 GeneticVariation BEFREE However, the SCN5A variants R568H and A993T can be classified as pathogenic LQTS3 causing mutations, while R222stop and R2012H are novel BrS causing mutations. 27287068

2016
dbSNP: rs199473282
rs199473282
SCN5A
A 0.740 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111

2015
dbSNP: rs137854611
rs137854611
SCN5A
T 0.710 GeneticVariation CLINVAR Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations. 26283144

2015
dbSNP: rs794728849
rs794728849
SCN5A
A 0.710 CausalMutation CLINVAR Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111

2015
dbSNP: rs1366120635
rs1366120635
SCN5A
T 0.700 CausalMutation CLINVAR Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111

2015
dbSNP: rs137854604
rs137854604
SCN5A
A 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs137854618
rs137854618
SCN5A
T 0.700 CausalMutation CLINVAR Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture. 26111534

2015