Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002012927 | SCV002291316 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2021-04-22 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRIP1-related conditions. This sequence change replaces glycine with alanine at codon 12 of the BRIP1 protein (p.Gly12Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. |
| Ambry Genetics | RCV002458966 | SCV002617542 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-29 | criteria provided, single submitter | clinical testing | The p.G12A variant (also known as c.35G>C), located in coding exon 1 of the BRIP1 gene, results from a G to C substitution at nucleotide position 35. The glycine at codon 12 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |