Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Genetics, |
RCV000851497 | SCV000994552 | likely pathogenic | Intellectual disability | 2017-07-31 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000851497 | SCV001434578 | likely pathogenic | Intellectual disability | 2020-04-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002510991 | SCV002820340 | pathogenic | not provided | 2022-07-11 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate reduced enzymatic activity compared to wildtype, likely due to impaired enzyme-Ac-CoA binding (Ree et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31174490, 31088393) |