Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589375 | SCV000699718 | uncertain significance | not provided | 2017-06-16 | criteria provided, single submitter | clinical testing | Variant summary: The BRIP1 c.3242C>T (p.Ala1081Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not available). The variant of interest is located outside of any known functional domain or repeat. The variant of interest has not been found in a large, broad control population, ExAC in 121194 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS). |
| Ambry Genetics | RCV003302906 | SCV004001402 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-06-01 | criteria provided, single submitter | clinical testing | The p.A1081V variant (also known as c.3242C>T), located in coding exon 19 of the BRIP1 gene, results from a C to T substitution at nucleotide position 3242. The alanine at codon 1081 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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. |
| Labcorp Genetics |
RCV003767343 | SCV004576844 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2023-06-09 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 496484). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1081 of the BRIP1 protein (p.Ala1081Val). |