ClinVar Miner

Submissions for variant NC_000005.9:g.(?_70892087)_(70892211_?)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 RCV003111471 SCV003791891 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2020-12-21 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 3 of the MCCC2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MCCC2-related conditions. Loss-of-function variants in MCCC2 are known to be pathogenic (PMID: 11181649, 22642865). For these reasons, this variant has been classified as Pathogenic.

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