ClinVar Miner

Submissions for variant NC_000013.10:g.(?_48517506)_(48575405_?)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 RCV004578314 SCV005067024 pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2022-12-21 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SUCLA2 gene has been identified. Loss-of-function variants in SUCLA2 are known to be pathogenic (PMID: 15877282, 17301081). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. For these reasons, this variant has been classified as Pathogenic. Isolated whole-gene deletions of SUCLA2 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 26475597).

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