ClinVar Miner

Submissions for variant NC_000010.10:g.(?_97366519)_(97626140_?)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 RCV004580420 SCV005065703 pathogenic Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2022-11-06 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 ALDH18A1-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the ALDH18A1 gene has been identified. Loss-of-function variants in ALDH18A1 are known to be pathogenic (PMID: 21739576, 24913064, 28567303, 28604674, 29915212). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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