ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.3G>A (p.Met1Ile)

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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 RCV005186785 SCV005828676 uncertain significance Familial hemiplegic migraine 2024-08-15 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ATP1A2 mRNA. The next in-frame methionine is located at codon 39. 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. 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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