ClinVar Miner

Submissions for variant NC_000001.10:g.(?_160094906)_(160097630_?)del

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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 RCV001939956 SCV002179355 uncertain significance Familial hemiplegic migraine 2021-08-21 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is a gross deletion of the genomic region encompassing exon(s) 7-8 of the ATP1A2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with ATP1A2-related conditions.

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