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 14523039] Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).

[PMID 15671429] Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

[PMID 20129283] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

[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.


Parent Gene: SCN5A

Importance: 1
Less common allele: A = 0%
More common allele: G = 100%
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