Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388010 | SCV001588792 | pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2021-02-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn324Leufs*27) 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). For these reasons, this variant has been classified as Pathogenic. 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). |