ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val)

dbSNP: rs770647690
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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 RCV000798018 SCV000937610 uncertain significance Hyperkalemic periodic paralysis 2020-02-14 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SCN4A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 1636 of the SCN4A protein (p.Ala1636Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.
Fulgent Genetics, Fulgent Genetics RCV002495055 SCV002788195 uncertain significance Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2022-05-07 criteria provided, single submitter clinical testing

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