ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1639del (p.Glu547fs)

dbSNP: rs1651730901
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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 RCV001218848 SCV001390752 pathogenic Familial hemiplegic migraine 2023-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu547Serfs*9) in the ATP1A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP1A2 are known to be pathogenic (PMID: 30690204). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATP1A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 947719). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV001819908 SCV002064349 pathogenic not provided 2018-05-23 criteria provided, single submitter clinical testing

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