ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2795A>C (p.Asp932Ala)

dbSNP: rs1597973465
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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 RCV000807966 SCV000948048 uncertain significance Familial hyperkalemic periodic paralysis 2022-07-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 932 of the SCN4A protein (p.Asp932Ala). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 652422). 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 C65"). 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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