ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3201C>G (p.Cys1067Trp)

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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 RCV002322987 SCV002609303 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-19 criteria provided, single submitter clinical testing The p.C1067W variant (also known as c.3201C>G), located in coding exon 19 of the BRIP1 gene, results from a C to G substitution at nucleotide position 3201. The cysteine at codon 1067 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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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