ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1121A>T (p.Asp374Val)

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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 RCV002440120 SCV002750205 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-19 criteria provided, single submitter clinical testing The p.D374V variant (also known as c.1121A>T), located in coding exon 7 of the BRIP1 gene, results from an A to T substitution at nucleotide position 1121. The aspartic acid at codon 374 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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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