ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln)

dbSNP: rs780703403
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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 RCV000557400 SCV000658559 pathogenic Familial hyperkalemic periodic paralysis 2022-07-12 criteria provided, single submitter clinical testing This missense change has been observed in individuals with autosomal recessive congenital myopathy (PMID: 28262468, 30283817). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SCN4A function (PMID: 28262468, 30283817). 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: 477417). This variant is present in population databases (rs780703403, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1142 of the SCN4A protein (p.Arg1142Gln).
OMIM RCV003227493 SCV003924068 pathogenic Congenital myopathy 22A, classic 2024-07-16 no assertion criteria provided literature only

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