ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.524del (p.Lys175fs)

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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 RCV002838723 SCV003212261 pathogenic Familial hemiplegic migraine 2024-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys175Argfs*17) 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 not present in population databases (gnomAD no frequency). 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: 2011853). For these reasons, this variant has been classified as Pathogenic.

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