ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1810C>T (p.Arg604Ter)

dbSNP: rs1469902667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311655 SCV001501928 pathogenic not provided 2021-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871779 SCV002203126 pathogenic Familial hemiplegic migraine 2022-12-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1013256). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ATP1A2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg604*) 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).

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