ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.298A>C (p.Met100Leu)

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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 RCV004519828 SCV005029239 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-22 criteria provided, single submitter clinical testing The p.M100L variant (also known as c.298A>C), located in coding exon 3 of the BRIP1 gene, results from an A to C substitution at nucleotide position 298. The methionine at codon 100 is replaced by leucine, an amino acid with highly similar properties. 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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