ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1043G>A (p.Arg348His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000699311 SCV000847903 uncertain significance Familial hemiplegic migraine 2016-09-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000699311 SCV000828016 uncertain significance Familial hemiplegic migraine 2018-06-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 348 of the ATP1A2 protein (p.Arg348His). 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 ATP1A2-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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