ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764137 SCV000895122 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
Invitae RCV000700677 SCV000829442 uncertain significance Hyperkalemic Periodic Paralysis Type 1 2018-04-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1828 of the SCN4A protein (p.Arg1828Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs758511540, ExAC 0.01%). This variant has been reported in an individual affected with generalized epilepsy (PMID: 26423924). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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