|(C;C)||0||common in clinvar|
|(C;T)||1||Now: Probably benign. Formerly: increased risk for dilated cardiomyopathy|
|(T;T)||1||Now: Probably benign. Formerly: increased risk for dilated cardiomyopathy|
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]
Update as of 2015/2016: The classification in ClinVar has changed, and this variant is now considered either benign or of unclear significance.
|Disease||Sick sinus syndrome 1 Brugada syndrome Nodal rhythm not specified Cardiovascular phenotype Dilated cardiomyopathy 1E|
|CLNDBN||Sick sinus syndrome 1, autosomal recessive Brugada syndrome Nodal rhythm not specified Cardiovascular phenotype Dilated cardiomyopathy 1E|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000009998.4, RCV000058832.5, RCV000148857.1, RCV000151804.5, RCV000251727.1, RCV000258831.1,|
[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.