ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1163A>T (p.Gln388Leu)

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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 RCV002321404 SCV002631964 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-24 criteria provided, single submitter clinical testing The p.Q388L variant (also known as c.1163A>T), located in coding exon 8 of the BRIP1 gene, results from an A to T substitution at nucleotide position 1163. The glutamine at codon 388 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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