Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001240172 | SCV001413096 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2022-06-07 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 965666). This variant has not been reported in the literature in individuals affected with JAG1-related conditions. This sequence change creates a premature translational stop signal (p.Gly193Alafs*219) in the JAG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599). |