Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000536304 | SCV000633694 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 129 of the BRIP1 protein (p.Pro129Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 461168). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
| Ambry Genetics | RCV002358486 | SCV002619972 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-25 | criteria provided, single submitter | clinical testing | The p.P129S variant (also known as c.385C>T), located in coding exon 4 of the BRIP1 gene, results from a C to T substitution at nucleotide position 385. The proline at codon 129 is replaced by serine, an amino acid with similar properties. This amino acid position is 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. |
| Breakthrough Genomics, |
RCV004691859 | SCV005193000 | uncertain significance | not provided | criteria provided, single submitter | not provided |