Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000221278 | SCV000279734 | pathogenic | not provided | 2016-01-13 | criteria provided, single submitter | clinical testing | The K990X nonsense variant in the JAG1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The K990X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with a diagnosis of Alagille syndrome. |