ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1160C>T (p.Ala387Val)

dbSNP: rs1651667301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001313743 SCV001504247 uncertain significance Familial hemiplegic migraine 2021-08-22 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1014939). This variant has been observed in individual(s) with ATP1A2-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 387 of the ATP1A2 protein (p.Ala387Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
GeneDx RCV004797932 SCV005420128 uncertain significance not provided 2024-05-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18184292)

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