ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.557del (p.Pro186fs)

dbSNP: rs1745582317
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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 RCV001211692 SCV001383244 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2019-10-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MCCC2 are known to be pathogenic (PMID: 11181649, 22642865). This variant has not been reported in the literature in individuals with MCCC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro186Glnfs*87) in the MCCC2 gene. It is expected to result in an absent or disrupted protein product.

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