ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.808_820dup (p.Trp274Ter)

dbSNP: rs1555153077
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640432 SCV000762023 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-04-19 criteria provided, single submitter clinical testing A different variant (c.822G>A) giving rise to the same protein effect observed here (p.Trp274*) has been reported in an individual affected with suspected hereditary hemorrhagic telangiectasia (PMID: 21158752). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). This variant has not been reported in the literature in individuals with ACVRL1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp274*) in the ACVRL1 gene. It is expected to result in an absent or disrupted protein product.

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.