ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3383A>T (p.Glu1128Val)

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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 RCV004607156 SCV005101065 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-11 criteria provided, single submitter clinical testing The p.E1128V variant (also known as c.3383A>T), located in coding exon 19 of the BRIP1 gene, results from an A to T substitution at nucleotide position 3383. The glutamic acid at codon 1128 is replaced by valine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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