ClinVar Miner

Submissions for variant NC_000005.9:g.(?_70895476)_(70900305_?)dup

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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 RCV003111472 SCV003791892 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-06-28 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 4-6 of the MCCC2 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in MCCC2 are known to be pathogenic (PMID: 11181649, 22642865). A similar copy number variant has been observed in individual(s) with clinical features of 3-methylcrotonyl-CoA carboxylase deficiency (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic.

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