ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3185G>T (p.Gly1062Val) (rs397507211)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130834 SCV000185731 uncertain significance Hereditary cancer-predisposing syndrome 2013-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000485820 SCV000566531 uncertain significance not provided 2015-05-08 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3185G>T at the cDNA level, p.Gly1062Val (G1062V) at the protein level, and results in the change of a Glycine to a Valine (GGT>GTT). Using alternate nomenclature, this variant would be defined as BRCA1 3304G>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Gly1062Val was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Glycine and Valine share similar properties, this is considered a conservative amino acid substitution. BRCA1 Gly1062Val occurs at a position where amino acids with properties similar to Glycine are tolerated across species and is not located in a known functional domain (Narod 2004, Roy 2012, Borg 2012). In silicos predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BRCA1 Gly1062Val is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color RCV000130834 SCV000909316 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-17 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031094 SCV000053690 uncertain significance Breast-ovarian cancer, familial 1 2012-02-24 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.