ClinVar Miner

Submissions for variant NC_000002.11:g.(?_150443583)_(150443611_?)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 RCV003119651 SCV003794103 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2022-10-31 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the MMADHC gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MMADHC are known to be pathogenic (PMID: 18385497). 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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