Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198219 | SCV000250457 | pathogenic | not provided | 2019-11-26 | criteria provided, single submitter | clinical testing | Nonsense 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 16575836, 31343788) |
Invitae | RCV000817591 | SCV000958160 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2018-10-18 | 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). This variant has been observed in an individual affected with Alagille syndrome (PMID: 16575836). ClinVar contains an entry for this variant (Variation ID: 213530). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln304*) in the JAG1 gene. It is expected to result in an absent or disrupted protein product. |