ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.855dup (p.Ile286fs)

dbSNP: rs2101988410
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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 RCV001908451 SCV002162169 pathogenic Familial hemiplegic migraine 2021-07-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with autosomal recessive ATP1A2-related conditions. This variant has been reported in individual(s) with autosomal dominant ATP1A2-related conditions (Invitae); however, the role of the variant in this condition is currently unclear. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile286Aspfs*2) 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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