ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2285G>C (p.Arg762Pro)

dbSNP: rs200960251
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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 RCV000561123 SCV000666268 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-11 criteria provided, single submitter clinical testing The p.R762P variant (also known as c.2285G>C), located in coding exon 15 of the BRIP1 gene, results from a G to C substitution at nucleotide position 2285. The arginine at codon 762 is replaced by proline, 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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