ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.713C>A (p.Thr238Lys)

dbSNP: rs201661188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071347 SCV001236644 uncertain significance Hyperkalemic periodic paralysis 2022-04-21 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 864216). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 238 of the SCN4A protein (p.Thr238Lys).
Revvity Omics, Revvity RCV003142031 SCV003818756 uncertain significance not provided 2021-07-22 criteria provided, single submitter clinical testing

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