ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.506A>T (p.Gln169Leu)

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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 RCV004952573 SCV005553022 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-17 criteria provided, single submitter clinical testing The p.Q169L variant (also known as c.506A>T), located in coding exon 4 of the BRIP1 gene, results from an A to T substitution at nucleotide position 506. The glutamine at codon 169 is replaced by leucine, an amino acid with dissimilar properties. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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