ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.892_909dup (p.Val298_Ser303dup)

dbSNP: rs2101988440
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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 RCV002039156 SCV002313766 uncertain significance Familial hemiplegic migraine 2021-08-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with clinical features of ATP1A2-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This variant, c.892_909dup, results in the insertion of 6 amino acid(s) to the ATP1A2 protein (p.Val298_Ser303dup), but otherwise preserves the integrity of the reading frame.

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