ClinVar Miner

Submissions for variant NC_000013.10:g.(?_48517506)_(49070513_?)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 RCV001953749 SCV002243424 pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2022-08-08 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. A similar copy number variant has been observed in individual(s) with succinate-CoA ligase deficiency (PMID: 26475597). For these reasons, this variant has been classified as Pathogenic.

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