ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1236A>C (p.Glu412Asp)

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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 RCV002378283 SCV002667933 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-30 criteria provided, single submitter clinical testing The p.E412D variant (also known as c.1236A>C), located in coding exon 8 of the BRIP1 gene, results from an A to C substitution at nucleotide position 1236. The glutamic acid at codon 412 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is 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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