ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1703C>T (p.Pro568Leu) (rs80356910)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000588961 SCV000075577 likely benign not provided 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131307 SCV000186279 likely benign Hereditary cancer-predisposing syndrome 2017-11-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification
GeneDx RCV000443568 SCV000515690 likely benign not specified 2017-10-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000443568 SCV000591348 uncertain significance not specified 2015-10-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000443568 SCV000593689 uncertain significance not specified 2017-03-14 criteria provided, single submitter clinical testing
Color RCV000131307 SCV000682977 likely benign Hereditary cancer-predisposing syndrome 2017-03-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588961 SCV000698882 uncertain significance not provided 2016-05-09 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.1703C>T (p.Pro568Leu) variant involves the alteration of a non-conserved nucleotide. 2/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index). This variant has been reported in several HBOC patients without strong evidence for causality and is absent in 121082 control chromosomes. Multiple clinical diagnostic laboratories/reputable databases provided conflicting classifications for this variant ranging from VUS to Benign without evidence to independently evaluate. Additional data needed to evaluate this variant with confidence. Taken together, the variant is classified as a variant of uncertain significance (VUS) until new information becomes available.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588961 SCV000888844 likely benign not provided 2018-01-25 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083171 SCV000115245 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083171 SCV000144161 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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.