Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627283 | SCV000748275 | likely pathogenic | not provided | 2019-10-14 | 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 in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001386926 | SCV001587325 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2020-06-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu226*) in the MCCC1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MCCC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 523813). 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. |
Baylor Genetics | RCV001386926 | SCV004194256 | likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2023-09-23 | criteria provided, single submitter | clinical testing |