ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2101G>C (p.Gly701Arg)

dbSNP: rs1909105377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288739 SCV001476056 uncertain significance not provided 2019-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871721 SCV002297907 uncertain significance Familial hyperkalemic periodic paralysis 2021-08-12 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 994953). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 701 of the SCN4A protein (p.Gly701Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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