ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1089del (p.Cys364fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005205219 SCV005844630 pathogenic Dystonia 12 2025-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys364Alafs*13) 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: 24631656, 24983657). This variant is not present in population databases (gnomAD no frequency). 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.

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