Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002756476 | SCV003028874 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2022-03-14 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 419 of the BRIP1 protein (p.Arg419Pro). 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. This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Baylor Genetics | RCV003464593 | SCV004214631 | uncertain significance | Familial cancer of breast | 2023-10-23 | criteria provided, single submitter | clinical testing |