ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2330G>T (p.Arg777Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002457630 SCV002736342 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-24 criteria provided, single submitter clinical testing The p.R777L variant (also known as c.2330G>T), located in coding exon 15 of the BRIP1 gene, results from a G to T substitution at nucleotide position 2330. The arginine at codon 777 is replaced by leucine, 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.

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