ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2485C>T (p.Leu829Phe)

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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 RCV002430848 SCV002742799 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-23 criteria provided, single submitter clinical testing The p.L829F variant (also known as c.2485C>T), located in coding exon 16 of the BRIP1 gene, results from a C to T substitution at nucleotide position 2485. The leucine at codon 829 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. 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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