ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.601C>T (p.Gln201Ter) (rs1318446539)

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
Fulgent Genetics,Fulgent Genetics RCV000640438 SCV000893305 pathogenic Hereditary hemorrhagic telangiectasia type 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000627226 SCV000748215 pathogenic not provided 2018-04-16 criteria provided, single submitter clinical testing The Q201X variant in the ACVRL1 gene has been reported in an individual fulfilling three Curacao criteria for HHT due to a history of epistaxis, telangiectasias and a family history of HHT (Richards-Yutz et al., 2010). It has also been reported in another individual referred to an outside laboratory for HHT genetic testing, although no further clinical details were available (McDonald et al., 2011). Q201X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the ACVRL1 gene have been reported in the Human Gene Mutation Database in association with HHT (Stenson et al., 2014). Furthermore, the Q201X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016).
Invitae RCV000640438 SCV000762029 pathogenic Hereditary hemorrhagic telangiectasia type 2 2018-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln201*) 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 reported in an individual affected with hereditary hemorrhagic telangiectasia (PMID: 21158752). 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.