ClinVar Miner

Submissions for variant NC_000002.12:g.(?_149569964)_(149587107_?)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 RCV001032099 SCV001195406 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2022-02-10 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the MMADHC gene has been identified. Loss-of-function variants in MMADHC are known to be pathogenic (PMID: 18385497). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with MMADHC-related conditions. For these reasons, this variant has been classified as Pathogenic.

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