Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000776583 | SCV000912197 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000776583 | SCV002680806 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-24 | criteria provided, single submitter | clinical testing | The p.A2825T variant (also known as c.8473G>A), located in coding exon 18 of the BRCA2 gene, results from a G to A substitution at nucleotide position 8473. The alanine at codon 2825 is replaced by threonine, an amino acid with similar 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. |
Research Molecular Genetics Laboratory, |
RCV000496471 | SCV000587956 | uncertain significance | not specified | 2014-01-31 | no assertion criteria provided | research |