ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.75G>C (p.Gln25His)

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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 RCV002394242 SCV002671824 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-24 criteria provided, single submitter clinical testing The p.Q25H variant (also known as c.75G>C), located in coding exon 1 of the BRIP1 gene, results from a G to C substitution at nucleotide position 75. The glutamine at codon 25 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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