Rs63750743

rs63750743, also known as Ser358Leu or S358L, is a SNP in the TMEM43 gene on chromosome 3.

Carrying a single rs63750743(T) allele is reported to lead, sooner or later, to arrhythmogenic right ventricular dysplasia type 5 (ARVD5).

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.

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.