ClinVar Miner

Submissions for variant NC_000019.10:g.(?_41968775)_(41970552_?)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 RCV001032237 SCV001195544 pathogenic Dystonia 12 2021-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ATP1A3-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 17-20 of the ATP1A3 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in ATP1A3 are known to be pathogenic (PMID: 24983657, 24631656).

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