ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2711C>A (p.Pro904Gln)

dbSNP: rs867372759
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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 RCV001874713 SCV002129834 uncertain significance Hyperkalemic periodic paralysis 2021-05-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SCN4A-related conditions. 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 tolerated, 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with glutamine at codon 904 of the SCN4A protein (p.Pro904Gln). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and glutamine.
Fulgent Genetics, Fulgent Genetics RCV002478179 SCV002791068 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 2022-03-11 criteria provided, single submitter clinical testing

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