Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000645013 | SCV000766752 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2017-10-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599). This variant has been reported in an individual affected with Alagille syndrome (PMID: 16575836). This variant is also known as c.2773_2787delinsCCAGGGCA in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys925Serfs*18) in the JAG1 gene. It is expected to result in an absent or disrupted protein product. |