Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008024 | SCV001167756 | likely pathogenic | not provided | 2019-03-13 | criteria provided, single submitter | clinical testing | The E189X variant has not been previously published as pathogenic or benign to our knowledge. The E189X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Laboratory of Inherited Metabolic Diseases, |
RCV001089725 | SCV001245212 | pathogenic | Developmental and epileptic encephalopathy, 9 | 2020-02-14 | criteria provided, single submitter | clinical testing |