ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2632C>G (p.Leu878Val)

dbSNP: rs1603276933
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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 RCV001016176 SCV001177096 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-27 criteria provided, single submitter clinical testing The p.L878V variant (also known as c.2632C>G), located in coding exon 18 of the BRIP1 gene, results from a C to G substitution at nucleotide position 2632. The leucine at codon 878 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly 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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