ClinVar Miner

Submissions for variant NC_000005.9:g.(?_70898323)_(70928022_?)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 RCV001975178 SCV002241492 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-09-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5-8 of the MCCC2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. This variant disrupts a region of the MCCC2 protein in which other variant(s) (p.Arg155Trp) have been determined to be pathogenic (PMID: 16010683, 22642865, 26566957). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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