ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2519G>T (p.Gly840Val)

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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 RCV002455665 SCV002738645 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-09 criteria provided, single submitter clinical testing The p.G840V variant (also known as c.2519G>T), located in coding exon 17 of the BRIP1 gene, results from a G to T substitution at nucleotide position 2519. The glycine at codon 840 is replaced by valine, an amino acid with dissimilar 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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