Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230121 | SCV001402591 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2019-08-25 | 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). A different variant (c.2990C>A) giving rise to the same protein effect observed here (p.Ser997*) has been observed in an individual with Allagile syndrome (PMID: 26076142) This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser997*) in the JAG1 gene. It is expected to result in an absent or disrupted protein product. |