ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.788T>G (p.Leu263Arg)

dbSNP: rs2145416654
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002255809 SCV002529234 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-15 criteria provided, single submitter curation
Ambry Genetics RCV002255809 SCV005552978 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-23 criteria provided, single submitter clinical testing The p.L263R variant (also known as c.788T>G), located in coding exon 6 of the BRIP1 gene, results from a T to G substitution at nucleotide position 788. The leucine at codon 263 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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