Reevaluation of the South Asian <i>MYBPC3</i> ^Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy

Abstract

The <i>MYBPC3</i> c.1224-52G>A variant explains the disease risk previously associated with <i>MYBPC3</i>^Δ25 in the South Asian population and is one of the most frequent pathogenic variants in HCM in all populations; genotyping services should ensure coverage of this deep intronic mutation. Individuals carrying <i>MYBPC3</i>^Δ25 alone are not at increased risk of HCM, and this variant should not be tested in isolation; this is important for the large majority of the 100 million individuals of South Asian ancestry who carry <i>MYBPC3</i>^Δ25 and would previously have been declared at increased risk of HCM.