Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482433 | SCV000573683 | pathogenic | not provided | 2017-02-22 | criteria provided, single submitter | clinical testing | The W288X nonsense variant in the JAG1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the W288X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with the diagnosis of Alagille syndrome. |