ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter)

gnomAD frequency: 0.00001  dbSNP: rs1165052640
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512724 SCV000608500 likely pathogenic not provided 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000557101 SCV000632359 pathogenic Familial hemiplegic migraine 2024-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg421*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 444184). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000512724 SCV005334425 likely pathogenic not provided 2023-12-12 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); This variant is associated with the following publications: (PMID: 31440721)

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