Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002391812 | SCV002696616 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-05 | criteria provided, single submitter | clinical testing | The p.L474I variant (also known as c.1420C>A), located in coding exon 9 of the BRIP1 gene, results from a C to A substitution at nucleotide position 1420. The leucine at codon 474 is replaced by isoleucine, an amino acid with highly similar properties. This alteration was also detected on a 25-gene panel test in a woman who was diagnosed with breast cancer before age 50 (Tung N et al. Cancer, 2015 Jan;121:25-33). 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. |