Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579365 | SCV000680698 | pathogenic | not provided | 2017-09-05 | criteria provided, single submitter | clinical testing | The R409X nonsense variant in the MCCC1 gene has been reported previously in association with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (Stadler et al., 2006). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R409X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we interpret R409X to be a pathogenic variant. |
Invitae | RCV000653486 | SCV000775365 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2024-01-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg409*) 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). This variant is present in population databases (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with 3-Methylcrotonyl-CoA carboxylase deficiency (PMID: 16835865). ClinVar contains an entry for this variant (Variation ID: 488805). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000653486 | SCV004194273 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2023-07-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000653486 | SCV002079102 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2020-09-29 | no assertion criteria provided | clinical testing |