ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)

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 RCV001044982 SCV001208809 pathogenic Hereditary hemorrhagic telangiectasia 2020-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp491Alafs*26) in the ENG gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with hereditary haemorrhagic telangiectasia (PMID: 20414677). ClinVar contains an entry for this variant (Variation ID: 842548). Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500, 20656886, 22385575). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001263071 SCV001441148 pathogenic Hereditary hemorrhagic telangiectasia type 1 2018-01-01 criteria provided, single submitter research PVS1+PM2+PP4

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.