ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2T>C (p.Met1Thr)

dbSNP: rs1651158379
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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 RCV001323788 SCV001514717 uncertain significance Familial hemiplegic migraine 2020-10-09 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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. This variant has not been reported in the literature in individuals with ATP1A2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the ATP1A2 mRNA. The next in-frame methionine is located at codon 39.

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