ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5114T>G (p.Leu1705Arg)

dbSNP: rs397507242
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233568 SCV000289821 uncertain significance Hereditary breast ovarian cancer syndrome 2015-11-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. This sequence change replaces leucine with arginine at codon 1705 of the BRCA1 protein (p.Leu1705Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
Brotman Baty Institute, University of Washington RCV001076407 SCV001242150 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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.