ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2303G>T (p.Gly768Val)

dbSNP: rs1603303846
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015018 SCV001175802 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-16 criteria provided, single submitter clinical testing The p.G768V variant (also known as c.2303G>T), located in coding exon 15 of the BRIP1 gene, results from a G to T substitution at nucleotide position 2303. The glycine at codon 768 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860782 SCV002279530 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-05-02 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 821003). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 768 of the BRIP1 protein (p.Gly768Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.
Baylor Genetics RCV004569938 SCV005059283 uncertain significance Familial cancer of breast 2024-01-17 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.