Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001047259 | SCV001211200 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2022-10-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002497386 | SCV002813494 | uncertain significance | Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004553584 | SCV004119807 | uncertain significance | JAG1-related disorder | 2024-03-01 | criteria provided, single submitter | clinical testing | The JAG1 c.3007G>A variant is predicted to result in the amino acid substitution p.Glu1003Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |