Rs45620037

rs45620037, also known as Thr220Ile or T220I, is a SNP in the cardiac sodium channel SCN5A gene.

Individuals with a copy of the rs45620037(T) allele are considered at higher risk for dilated cardiomyopathy; see OMIM for discussion of one such patient.

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.

In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome.

Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.