Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001212752 | SCV001384347 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2019-10-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu553*) in the JAG1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed de novo in an individual with Alagille syndrome (PMID: 11180599). Loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599). For these reasons, this variant has been classified as Pathogenic. |