ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2811T>A (p.Asp937Glu)

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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 RCV002441715 SCV002752341 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-17 criteria provided, single submitter clinical testing The p.D937E variant (also known as c.2811T>A), located in coding exon 18 of the BRIP1 gene, results from a T to A substitution at nucleotide position 2811. The aspartic acid at codon 937 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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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