Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002435548 | SCV002747009 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-05-27 | criteria provided, single submitter | clinical testing | The p.R999K variant (also known as c.2996G>A), located in coding exon 19 of the BRIP1 gene, results from a G to A substitution at nucleotide position 2996. The arginine at codon 999 is replaced by lysine, an amino acid with highly similar properties. 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. |