Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000685179 | SCV000812652 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2020-02-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp725Glyfs*4) 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). 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: 9585603). This variant is also known as 2587insG in the literature. |
Gene |
RCV003328620 | SCV004035604 | pathogenic | not provided | 2023-09-15 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31343788, 9585603) |