Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001299020 | SCV001488096 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2021-10-08 | criteria provided, single submitter | clinical testing | 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 BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with valine at codon 187 of the BRCA2 protein (p.Glu187Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. |
| Ambry Genetics | RCV003166677 | SCV003858302 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-17 | criteria provided, single submitter | clinical testing | The p.E187V variant (also known as c.560A>T), located in coding exon 6 of the BRCA2 gene, results from an A to T substitution at nucleotide position 560. The glutamic acid at codon 187 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003462860 | SCV004213593 | uncertain significance | Familial cancer of breast | 2023-09-08 | criteria provided, single submitter | clinical testing |