ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.44G>T (p.Arg15Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV004733990 SCV005367916 uncertain significance Congenital long QT syndrome no assertion criteria provided research The c.44G>T missense variant in SCN10A occurs in a critical domain of the gene (PM1) and is absent from population databases (PM2). In silico predictions support a damaging effect (PP3). ACMG codes: PM1, PM2, PP3.

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