Rs45546039

rs45546039, also known as Arg222Gln or R222Q, is a SNP in the cardiac sodium channel SCN5A gene.

The rs45546039(A) allele is considered highly associated with dilated cardiomyopathy (CMD) and possibly long QT syndrome; see OMIM for discussion.

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.