Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000461585 | SCV000547249 | uncertain significance | Familial cancer of breast; Fanconi anemia, complementation group J | 2018-11-09 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with arginine at codon 869 of the BRIP1 protein (p.Gln869Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with ovarian cancer (PMID: 26315354). ClinVar contains an entry for this variant (Variation ID: 407799). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
| Color | RCV000775728 | SCV000910151 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-13 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000775728 | SCV001176950 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-09 | criteria provided, single submitter | clinical testing | Insufficient evidence |