ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)

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 RCV001217745 SCV001389597 pathogenic Hereditary hemorrhagic telangiectasia 2020-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys53*) 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 nonsense change has been observed in an individual affected with hereditary hemorrhagic telangiectasia (PMID: 15517393). 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 RCV001262055 SCV001439435 pathogenic Hereditary hemorrhagic telangiectasia type 1 2018-01-01 criteria provided, single submitter research PVS1+PM2+PP4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001262055 SCV001472748 pathogenic Hereditary hemorrhagic telangiectasia type 1 2020-08-28 criteria provided, single submitter clinical testing The ENG c.159C>A; p.Cys53Ter variant is reported in the literature in an individual affected with hereditary hemorrhagic telangiectasia (Letteboer 2005). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Letteboer TG et al. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. Hum Genet. 2005;116(1-2):8-16.

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.