ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763749 SCV000894635 uncertain significance Alternating hemiplegia of childhood 1; Familial hemiplegic migraine type 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000697585 SCV000826205 uncertain significance Familial hemiplegic migraine 2018-03-06 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 688 of the ATP1A2 protein (p.Ala688Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs200425518, ExAC 0.009%). 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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