ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1308_1318del (p.Lys436fs)

dbSNP: rs2112467862
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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 RCV001898703 SCV002172619 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1403091). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys436Asnfs*19) 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).

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