ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1568T>G (p.Leu523Trp) (rs397508885)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000047527 SCV000075540 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-11-20 criteria provided, single submitter clinical testing This sequence change replaces leucine with tryptophan at codon 523 of the BRCA1 protein (p.Leu523Trp). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and tryptophan. This variant is not present in population databases (rs397508885, ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 15735322). This variant is also known as 1687T>G in the literature. ClinVar contains an entry for this variant (Variation ID: 54295). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000129756 SCV000184563 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-18 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000129756 SCV000909375 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter 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.