ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1868T>C (p.Met623Thr)

gnomAD frequency: 0.00001  dbSNP: rs775045819
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002022655 SCV002288353 uncertain significance Brugada syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 623 of the SCN5A protein (p.Met623Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs775045819, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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