ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter) (rs145661597)

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 RCV000698044 SCV000826685 pathogenic Imerslund-Gräsbeck syndrome 2018-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1487*) in the CUBN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs145661597, ExAC 0.01%). This variant has not been reported in the literature in individuals with CUBN-related disease. Loss-of-function variants in CUBN are known to be pathogenic (PMID: 15024727, 22929189). For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000698044 SCV001192691 pathogenic Imerslund-Gräsbeck syndrome 2019-03-26 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.