Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000688523 | SCV000816139 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2018-06-13 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRIP1-related disease. This sequence change replaces serine with arginine at codon 278 of the BRIP1 protein (p.Ser278Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. |
| Ambry Genetics | RCV004026298 | SCV005029355 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-25 | criteria provided, single submitter | clinical testing | The p.S278R variant (also known as c.832A>C), located in coding exon 6 of the BRIP1 gene, results from an A to C substitution at nucleotide position 832. The serine at codon 278 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |