Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV001525084 | SCV001735100 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-11-02 | criteria provided, single submitter | clinical testing | This missense variant replaces methionine with leucine at codon 1041 of the BRIP1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV001525084 | SCV005029343 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-10-08 | criteria provided, single submitter | clinical testing | The p.M1041L variant (also known as c.3121A>T), located in coding exon 19 of the BRIP1 gene, results from an A to T substitution at nucleotide position 3121. The methionine at codon 1041 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV004571046 | SCV005059930 | uncertain significance | Familial cancer of breast | 2023-12-16 | criteria provided, single submitter | clinical testing |