ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1999G>A (p.Val667Met)

dbSNP: rs1487941051
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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 RCV001872175 SCV002125653 uncertain significance Hyperkalemic periodic paralysis 2021-06-17 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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 valine with methionine at codon 667 of the SCN4A protein (p.Val667Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine.
Fulgent Genetics, Fulgent Genetics RCV002482491 SCV002787606 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 2021-10-05 criteria provided, single submitter clinical testing

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