ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2116-14_2116-13delinsAA

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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 RCV003585557 SCV004267749 uncertain significance Familial hemiplegic migraine 2024-06-17 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the ATP1A2 gene. It does not directly change the encoded amino acid sequence of the ATP1A2 protein. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with ATP1A2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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.

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