ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4198T>A (p.Cys1400Ser)

dbSNP: rs2144776208
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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 RCV001905283 SCV002132079 uncertain significance Hyperkalemic periodic paralysis 2021-06-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SCN4A-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 disruptive. 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. This sequence change replaces cysteine with serine at codon 1400 of the SCN4A protein (p.Cys1400Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine.

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