ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1959C>A (p.Cys653Ter)

dbSNP: rs782105093
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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 RCV001984662 SCV002209127 pathogenic Dystonia 12 2023-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ATP1A3-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1434538). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys653*) in the ATP1A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP1A3 are known to be pathogenic (PMID: 24983657, 24631656).
GeneDx RCV004770293 SCV005376310 uncertain significance not provided 2023-10-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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