Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001007988 | SCV001167720 | pathogenic | not provided | 2018-10-01 | criteria provided, single submitter | clinical testing | The E953X nonsense variant in the JAG1 gene 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). This variant has not been reported previously to our knowledge. It was identified as an apparently de novo variant at GeneDx in an individual with clinical suspicion of Alagille syndrome due to bile duct obstruction. |