ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.449T>A (p.Met150Lys)

dbSNP: rs1009083383
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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 RCV001238476 SCV001411288 uncertain significance Hyperkalemic periodic paralysis 2019-08-19 criteria provided, single submitter clinical testing This sequence change replaces methionine with lysine at codon 150 of the SCN4A protein (p.Met150Lys). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN4A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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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