ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.652T>C (p.Cys218Arg)

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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 RCV004602532 SCV005101058 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-04 criteria provided, single submitter clinical testing The p.C218R variant (also known as c.652T>C), located in coding exon 6 of the BRIP1 gene, results from a T to C substitution at nucleotide position 652. The cysteine at codon 218 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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