Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000808799 | SCV000948921 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2018-10-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MCCC1 are known to be pathogenic (PMID: 11181649, 15359379, 22642865). This variant has not been reported in the literature in individuals with MCCC1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His404Profs*14) in the MCCC1 gene. It is expected to result in an absent or disrupted protein product. |