Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255554 | SCV000321872 | pathogenic | not provided | 2022-04-07 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Reported along with a second variant in the MCCC1 gene in a patient with 3-MCC deficiency in the published literature; however, segregation information was not provided (Grunert et al., 2012); This variant is associated with the following publications: (PMID: 22264772, 32778825, 22642865) |
Invitae | RCV000705149 | SCV000834134 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2023-03-11 | 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: 265231). This premature translational stop signal has been observed in individual(s) with 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 22642865). This variant is present in population databases (rs750484977, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Ser327*) 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). |
Baylor Genetics | RCV000705149 | SCV004194267 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2023-08-21 | criteria provided, single submitter | clinical testing |