ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1474G>C (p.Gly492Arg)

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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 RCV002397017 SCV002701093 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-03 criteria provided, single submitter clinical testing The p.G492R variant (also known as c.1474G>C) is located in coding exon 10 of the BRIP1 gene. The glycine at codon 492 is replaced by arginine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 10. This amino acid position is conserved. 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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