ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1182A>C (p.Glu394Asp)

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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 RCV003171870 SCV003859923 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-12 criteria provided, single submitter clinical testing The p.E394D variant (also known as c.1182A>C), located in coding exon 8 of the BRIP1 gene, results from an A to C substitution at nucleotide position 1182. The glutamic acid at codon 394 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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