ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1784A>G (p.Glu595Gly)

dbSNP: rs876660455
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
Ambry Genetics RCV000222581 SCV000277900 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-21 criteria provided, single submitter clinical testing The p.E595G variant (also known as c.1784A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 1784. The glutamic acid at codon 595 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, glycine is the reference amino acid in other vertebrate species. 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV000222581 SCV003849737 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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.