ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.5750A>G (p.Gln1917Arg) (rs878855295)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234019 SCV000291824 uncertain significance Brugada syndrome 2015-12-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1918 of the SCN5A protein (p.Gln1918Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In addition, 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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