ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706143 SCV000835177 uncertain significance Hyperkalemic Periodic Paralysis Type 1 2018-06-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 823 of the SCN4A protein (p.Gln823Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs753182664, ExAC 0.1%). 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 RCV000764143 SCV000895128 uncertain significance Hypokalemic periodic paralysis 1; Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 2018-10-31 criteria provided, single submitter clinical testing

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