Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578625 | SCV000680699 | pathogenic | not provided | 2017-11-14 | criteria provided, single submitter | clinical testing | The Y315X variant has been reported in an individual with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency who also harbored another pathogenic nonsense variant in the MCCC1 gene (Stadler et al. 2006). The Y315X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret Y315X as pathogenic. |
Eurofins Ntd Llc |
RCV000578625 | SCV000705684 | pathogenic | not provided | 2017-02-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763509 | SCV000894307 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000763509 | SCV001377602 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2023-08-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr315*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 488806). This premature translational stop signal has been observed in individual(s) with 3 methylcrotonyl-CoA carboxylase deficiency (PMID: 16835865). This variant is present in population databases (rs150862707, gnomAD 0.002%). |
Baylor Genetics | RCV000763509 | SCV004191955 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2024-03-26 | criteria provided, single submitter | clinical testing |