ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.3944G>T (p.Arg1315Leu) (rs765907469)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197793 SCV000255231 uncertain significance Brugada syndrome 2015-02-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 1316 of the SCN5A protein (p.Arg1316Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant has been reported in the literature in an individual whose cause of death was unknown (PMID: 24631775) and is present in population databases (noRSID, <0.01%). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change with uncertain impact on protein function. In the absence of any functional evidence or segregation studies, at this time it has been classified as a Variant of Uncertain Significance.

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