ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs) (rs1555152955)

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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507968 SCV000602432 pathogenic not specified 2017-01-24 criteria provided, single submitter clinical testing
Invitae RCV001205745 SCV001377016 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr248Serfs*143) in the ACVRL1 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 individuals affected with hereditary hemorrhagic telangiectasia (PMID: 16542389, 20414677). Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). For these reasons, this variant has been classified as Pathogenic.

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.