ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1882G>A (p.Val628Met) (rs1553245659)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521836 SCV000617441 pathogenic not provided 2017-03-13 criteria provided, single submitter clinical testing The V628M pathogenic variant in the ATP1A2 gene has been reported previously in association with familial hemiplegic migraine (FHM) (Vanmolkot et al., 2006; Mjaset et al., 2008). Functional studies demonstrate V628M expressing cells result in lower survival rate than wild type cells, affect the phosphorylation reaction, and compromise pump function under physiological conditions (Vanmolkot et al., 2006; Schack et al., 2012). The V628M variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V628M variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V628M as a pathogenic variant
CeGaT Praxis fuer Humangenetik Tuebingen RCV000521836 SCV001249778 pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing

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