Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001220292 | SCV001392272 | pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2023-08-02 | 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: 948935). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. This variant is present in population databases (rs760881963, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg59*) 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). |
Baylor Genetics | RCV001220292 | SCV004194342 | likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2023-09-24 | criteria provided, single submitter | clinical testing |