Rs397516074

rs397516074, also known as c.772G>A and p.Glu258Lys, is a mutation in the MYBPC3 gene considered to be an autosomal dominant leading to familial hypertrophic cardiomyopathy, according to multiple sources in ClinVar.

This mutation was the fifth most common pathogenic variant seen in 2,912 unrelated individuals with nonsyndromic hypertrophic cardiomyopathy (HCM) presentations over a 10 year period (2004-2014) at the Partners Healthcare Personalized Medicine clinic in Boston.

Note: 23andMe refers to this SNP as i5046177.