ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2977CTC[1] (p.Leu994del)

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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 RCV002648213 SCV003523915 pathogenic Familial hemiplegic migraine 2022-10-14 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects ATP1A2 function (PMID: 24921013). This variant has been observed in individual(s) with hemiplegic migrane (PMID: 20837964). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This variant, c.2980_2982del, results in the deletion of 1 amino acid(s) of the ATP1A2 protein (p.Leu994del), but otherwise preserves the integrity of the reading frame.

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