ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1386A>C (p.Glu462Asp)

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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 RCV004602548 SCV005101092 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-03 criteria provided, single submitter clinical testing The p.E462D variant (also known as c.1386A>C), located in coding exon 9 of the BRIP1 gene, results from an A to C substitution at nucleotide position 1386. The glutamic acid at codon 462 is replaced by aspartic acid, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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