Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001016973 | SCV001177986 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-04 | criteria provided, single submitter | clinical testing | The p.G3358V variant (also known as c.10073G>T), located in coding exon 26 of the BRCA2 gene, results from a G to T substitution at nucleotide position 10073. The glycine at codon 3358 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
| Labcorp Genetics |
RCV001233941 | SCV001406561 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2020-12-23 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with valine at codon 3358 of the BRCA2 protein (p.Gly3358Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |