Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548026 | SCV000633635 | uncertain significance | Familial cancer of breast; Fanconi anemia, complementation group J | 2019-11-21 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 909 of the BRIP1 protein (p.Leu909Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs770966270, ExAC 0.001%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 461127). Algorithms developed to predict the effect of missense changes on protein structure and function 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. |
Color | RCV000775413 | SCV000909758 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-12-21 | criteria provided, single submitter | clinical testing |