ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2293G>A (p.Val765Met)

dbSNP: rs1555590489
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575297 SCV000668944 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-20 criteria provided, single submitter clinical testing The p.V765M variant (also known as c.2293G>A), located in coding exon 15 of the BRIP1 gene, results from a G to A substitution at nucleotide position 2293. The valine at codon 765 is replaced by methionine, an amino acid with highly similar 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237935 SCV002010915 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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