Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002003998 | SCV002278994 | uncertain significance | Alagille syndrome due to a JAG1 point mutation | 2022-10-05 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 771 of the JAG1 protein (p.Lys771Thr). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1498899). This variant has not been reported in the literature in individuals affected with JAG1-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Fulgent Genetics, |
RCV002486616 | SCV002791652 | 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 | 2022-04-05 | criteria provided, single submitter | clinical testing |