Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255391 | SCV000322304 | pathogenic | not provided | 2017-01-04 | criteria provided, single submitter | clinical testing | The Q50X nonsense variant in the JAG1 gene has been reported previously in a patient with evidence of bile duct paucity and meeting three out of five clinical criteria for Alagille syndrome (Colliton et al., 2001). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In addition, Q50X 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. |
Gharavi Laboratory, |
RCV000255391 | SCV000809292 | pathogenic | not provided | 2018-09-16 | no assertion criteria provided | research |