ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3596T>A (p.Leu1199Gln)

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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 RCV002455150 SCV002614906 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-14 criteria provided, single submitter clinical testing The p.L1199Q variant (also known as c.3596T>A), located in coding exon 19 of the BRIP1 gene, results from a T to A substitution at nucleotide position 3596. The leucine at codon 1199 is replaced by glutamine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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