rs7626962

rs7626962, also known as Ser1103Tyr or S1103Y, is a SNP in the cardiac sodium channel SCN5A gene. Although relatively common (for a rare allele; 10 - 20% of individuals) in those of African ancestry, in all populations the rs7626962(T) allele has been reported to increase the risk for cardiac issues such as long QT syndrome but also arrhythmias and even sudden infant death syndrome. The odds ratio for displaying signs of arrhythmia for anyone carrying a rs7626962(T) allele is reported as 8.7 (CI 3.2 - 23.9) ; as for sudden infant death syndrome, at least in African-ancestry populations, the odds ratio for the same allele is reported as 4.9, leading to an odds ratio of 24 for rs7626962(T;T) homozygotes. This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about. Note, however, that as of 2015/2016, this variant has been re-classified as either benign or likely benign in ClinVar (by two labs), so the clinical significance is quite unclear.

G;T

See discussion at rs7626962; the rs7626962(T) allele was formerly associated with higher risk of syncope, ventricular arrhythmia, and ventricular fibrillation.

T;T

See discussion at rs7626962; the rs7626962(T) allele was formerly associated with higher risk of syncope, ventricular arrhythmia, and ventricular fibrillation, and in one study, this (T;T) genotype was reported to be at 24 fold higher risk for sudden infant death syndrome compared to those without any T alleles.