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.[PMID 23788249]
[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 15671429] Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.
[PMID 20448214] Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome.
[PMID 20539757] Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.