ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2665C>T (p.Arg889Ter) (rs774765029)

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
Invitae RCV000456191 SCV000541469 pathogenic Werner syndrome 2016-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 889 (p.Arg889*) of the WRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WRN are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with Werner syndrome (PMID: 8968742, 16786514, 9012406, 16673358). This variant is also known as 2896C>T in the literature. For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580038 SCV001809447 pathogenic not provided 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.