ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.342del (p.Pro115fs)

dbSNP: rs2112309156
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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 RCV001882224 SCV002162962 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-09-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Pro115Glnfs*15) in the MCCC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCCC2 are known to be pathogenic (PMID: 11181649, 22642865). This variant is not present in population databases (ExAC no frequency).

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