ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2101T>A (p.Leu701Ile)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002424242 SCV002730388 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-30 criteria provided, single submitter clinical testing The p.L701I variant (also known as c.2101T>A), located in coding exon 14 of the BRIP1 gene, results from a T to A substitution at nucleotide position 2101. The leucine at codon 701 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.