Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000221335 | SCV000279651 | pathogenic | not provided | 2015-12-16 | criteria provided, single submitter | clinical testing | The K694X nonsense variant in the JAG1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Variants resulting in premature termination of protein translation account for more than 70% of mutations in the JAG1 gene associated with Alagille syndrome (Spinner et al., 2001). Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with a diagnosis of Alagille syndrome. |