ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3050G>C (p.Trp1017Ser)

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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 RCV002596224 SCV003503604 uncertain significance Hyperkalemic periodic paralysis 2022-02-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This sequence change replaces tryptophan, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 1017 of the SCN4A protein (p.Trp1017Ser).
Fulgent Genetics, Fulgent Genetics RCV005021609 SCV005651767 uncertain significance Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 2024-03-31 criteria provided, single submitter clinical testing

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