ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.3992del (p.Pro1331fs) (rs727504801)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156127 SCV000205841 pathogenic Primary dilated cardiomyopathy; Brugada syndrome 2013-10-21 criteria provided, single submitter clinical testing The Pro1332fs variant in SCN5A has not been previously reported in individuals w ith cardiomyopathy. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 1332 and lead to a premature terminati on codon 4 amino acids downstream. Heterozygous loss of function variants of the SCN5A gene have been previously reported for DCM (Olson 2005), Brugada syndrome (Kapplinger 2010), ventricular fibrillation (Chen 1998), and atrioventricular b lock and cardiac conduction defects (Baruteau 2012). Individuals with a frameshi ft or missense SCN5A variant and a diagnosis of DCM have been reported to presen t overlapping features with conduction defects, including atrial fibrillation an d arrhythmia (Olson 2005, McNair 2011). In summary, this variant meets our crite ria to be classified as pathogenic (
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845525 SCV000987634 pathogenic Familial dilated cardiomyopathy criteria provided, single submitter clinical testing

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