ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu)

dbSNP: rs80338951
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000020280 SCV004553048 uncertain significance Hyperkalemic periodic paralysis 2023-08-10 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. Experimental studies have shown that this missense change does not substantially affect SCN4A function (PMID: 12766226). 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. ClinVar contains an entry for this variant (Variation ID: 21161). 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 serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 246 of the SCN4A protein (p.Ser246Leu).
GeneReviews RCV000020280 SCV000040635 not provided Hyperkalemic periodic paralysis no assertion provided literature only
OMIM RCV000201211 SCV000255931 pathogenic Congenital myasthenic syndrome 16 2003-06-10 no assertion criteria provided literature only
GeneReviews RCV000235040 SCV000292414 not provided Congenital myasthenic syndrome no assertion provided literature only

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