Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214771 | SCV001386474 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2022-11-06 | 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: 944382). This premature translational stop signal has been observed in individual(s) with 3 methylcrotonyl-CoA carboxylase deficiency (PMID: 22642865). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val76Glyfs*4) in the MCCC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCCC1 are known to be pathogenic (PMID: 11181649, 15359379, 22642865). |
Revvity Omics, |
RCV001214771 | SCV002017230 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2020-11-10 | criteria provided, single submitter | clinical testing |