Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003795976 | SCV004580625 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2023-08-25 | criteria provided, single submitter | clinical testing | Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRIP1 protein function. 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. 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). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 920 of the BRIP1 protein (p.Pro920Leu). |
| Ambry Genetics | RCV004605041 | SCV005101105 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-06-18 | criteria provided, single submitter | clinical testing | The p.P920L variant (also known as c.2759C>T), located in coding exon 18 of the BRIP1 gene, results from a C to T substitution at nucleotide position 2759. The proline at codon 920 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |