ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1765C>G (p.Leu589Val)

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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 RCV004602544 SCV005101084 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-26 criteria provided, single submitter clinical testing The p.L589V variant (also known as c.1765C>G), located in coding exon 11 of the BRIP1 gene, results from a C to G substitution at nucleotide position 1765. The leucine at codon 589 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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