ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1477C>T (p.Arg493Ter)

dbSNP: rs534696343
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003595849 SCV004263874 likely pathogenic Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2024-02-09 criteria provided, single submitter clinical testing
GeneDx RCV004593377 SCV005078276 likely pathogenic not provided 2023-10-19 criteria provided, single submitter clinical testing 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); Has not been previously published as pathogenic or benign in association with neurodevelopmental disorders to our knowledge; This variant is associated with the following publications: (PMID: 24463508)
Labcorp Genetics (formerly Invitae), Labcorp RCV005101422 SCV005820039 pathogenic Familial hemiplegic migraine 2024-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg493*) 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 (rs534696343, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ATP1A2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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