Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color | RCV000584427 | SCV000689379 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-07-21 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000801887 | SCV000941686 | uncertain significance | Familial cancer of breast; Fanconi anemia, complementation group J | 2018-11-02 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with leucine at codon 1139 of the BRIP1 protein (p.Pro1139Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 491469). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |