Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000476270 | SCV000545814 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2016-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal at codon 181 (p.Tyr181*) of the JAG1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599, 12497640). |