ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1195C>T (p.Leu399=)

gnomAD frequency: 0.00004  dbSNP: rs369253900
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041596 SCV000065292 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Leu399Leu in exon 10 of SCN5A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/3368 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS). Leu399Leu in exon 10 of SCN5A (allele freque ncy = 1/3368) **
GeneDx RCV000041596 SCV000514535 benign not specified 2015-05-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003654187 SCV000557102 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841585 SCV000914082 likely benign Cardiac arrhythmia 2018-06-11 criteria provided, single submitter clinical testing

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