ClinVar Miner

Submissions for variant NC_000001.10:g.(?_17316166)_(17332293_?)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 RCV001953412 SCV002238728 pathogenic Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-08-06 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 ATP13A2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 2-23 of the ATP13A2 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 ATP13A2 are known to be pathogenic (PMID: 16964263, 21696388).

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