ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2518G>A (p.Gly840Arg)

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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 RCV002433017 SCV002742004 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-03 criteria provided, single submitter clinical testing The p.G840R variant (also known as c.2518G>A), located in coding exon 17 of the BRIP1 gene, results from a G to A substitution at nucleotide position 2518. The glycine at codon 840 is replaced by arginine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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