ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1535A>C (p.Glu512Ala)

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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 RCV002403028 SCV002706938 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-21 criteria provided, single submitter clinical testing The p.E512A variant (also known as c.1535A>C), located in coding exon 10 of the BRIP1 gene, results from an A to C substitution at nucleotide position 1535. The glutamic acid at codon 512 is replaced by alanine, an amino acid with dissimilar 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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