ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2383G>C (p.Glu795Gln)

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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 RCV002457919 SCV002738381 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-10 criteria provided, single submitter clinical testing The p.E795Q variant (also known as c.2383G>C), located in coding exon 16 of the BRIP1 gene, results from a G to C substitution at nucleotide position 2383. The glutamic acid at codon 795 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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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