Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468292 | SCV000545813 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2021-05-06 | 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. This particular variant has been reported in individuals affected with Alagille syndrome (PMID: 10220506, 25525159). This sequence change creates a premature translational stop signal at codon 1002 (p.Cys1002*) of the JAG1 gene. It is expected to result in an absent or disrupted protein product. |