ClinVar Miner

Submissions for variant NC_000005.10:g.(?_71599649)_(71599770_?)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 RCV001033441 SCV001196748 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2019-12-30 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 4 of the MCCC2 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with MCCC2-related conditions. This variant disrupts the p.Glu99 amino acid residue in MCCC2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11181649, 22642865, 11406611). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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