ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2459A>T (p.Gln820Leu)

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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 RCV003297022 SCV003998198 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-08 criteria provided, single submitter clinical testing The p.Q820L variant (also known as c.2459A>T), located in coding exon 16 of the BRIP1 gene, results from an A to T substitution at nucleotide position 2459. The glutamine at codon 820 is replaced by leucine, an amino acid with dissimilar 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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