ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2500C>T (p.Arg834Ter)

dbSNP: rs755310507
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256148 SCV000322274 pathogenic not provided 2024-11-18 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect, as this variant showed extremely low ouabain binding and low ATPase activity in vitro (PMID: 24704353); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 20974584, 18056581, 27445835, 30690204, 24704353)
Labcorp Genetics (formerly Invitae), Labcorp RCV001348307 SCV001542605 pathogenic Familial hemiplegic migraine 2025-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg834*) 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 present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been observed in the literature in individuals with autosomal recessive ATP1A2-related conditions. This variant has been reported in individual(s) with autosomal dominant familial hemiplegic migraine (PMID: 18056581); however, the role of the variant in this condition is currently unclear. ClinVar contains an entry for this variant (Variation ID: 265408). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University Hospital of Duesseldorf RCV003454779 SCV004177274 uncertain significance Migraine, familial hemiplegic, 2 criteria provided, single submitter not provided

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