ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4645G>A (p.Gly1549Arg)

dbSNP: rs748122664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002036045 SCV002313138 uncertain significance Hyperkalemic periodic paralysis 2021-09-17 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is present in population databases (rs748122664, ExAC 0.02%). This sequence change replaces glycine with arginine at codon 1549 of the SCN4A protein (p.Gly1549Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.
Dept of Medical Biology, Uskudar University RCV003318409 SCV004021998 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM1, PM2, PP3

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