ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) (rs748517635)

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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 RCV000518131 SCV000615100 uncertain significance not specified 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV000532008 SCV000658580 uncertain significance Hyperkalemic Periodic Paralysis Type 1 2017-11-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1451 of the SCN4A protein (p.Arg1451His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. 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. 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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