ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.53C>G (p.Pro18Arg)

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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 RCV004602549 SCV005101093 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-03 criteria provided, single submitter clinical testing The p.P18R variant (also known as c.53C>G), located in coding exon 1 of the BRIP1 gene, results from a C to G substitution at nucleotide position 53. The proline at codon 18 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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