ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4390G>A (p.Gly1464Arg) (rs150423825)

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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 RCV000713112 SCV000843683 uncertain significance not provided 2018-05-09 criteria provided, single submitter clinical testing
Invitae RCV000654667 SCV000776565 uncertain significance Hyperkalemic Periodic Paralysis Type 1 2017-10-10 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1464 of the SCN4A protein (p.Gly1464Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs150423825, ExAC 0.01%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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