ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3796G>A (p.Glu1266Lys)

gnomAD frequency: 0.00001  dbSNP: rs1398605254
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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 RCV000541828 SCV000658569 uncertain significance Hyperkalemic periodic paralysis 2017-09-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1266 of the SCN4A protein (p.Glu1266Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN4A-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Fulgent Genetics, Fulgent Genetics RCV002506373 SCV002816513 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 2022-05-12 criteria provided, single submitter clinical testing

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