ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4825A>C (p.Ser1609Arg) (rs1555600678)

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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 Inc RCV000518329 SCV000615106 uncertain significance not provided 2017-10-16 criteria provided, single submitter clinical testing
Invitae RCV000689826 SCV000817494 uncertain significance Hyperkalemic Periodic Paralysis Type 1 2018-03-22 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 1609 of the SCN4A protein (p.Ser1609Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN4A-related disease. ClinVar contains an entry for this variant (Variation ID: 448284). 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.

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