ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1308_1310del (p.Glu436_Asn437delinsAsp)

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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 RCV005180885 SCV005809231 uncertain significance Familial hemiplegic migraine 2024-02-07 criteria provided, single submitter clinical testing This variant, c.1308_1310del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the ATP1A2 protein (p.Glu436_Asn437delinsAsp). This variant is present in population databases (rs777558964, gnomAD 0.002%). 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 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.

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