ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3455C>A (p.Ala1152Asp)

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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 RCV003506304 SCV004282871 likely pathogenic Familial hyperkalemic periodic paralysis 2022-12-20 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects SCN4A function (PMID: 15790667). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN4A protein function. This missense change has been observed in individuals with clinical features of paramyotonia congenita (PMID: 15790667; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1152 of the SCN4A protein (p.Ala1152Asp).

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