ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1049-1G>A (rs1060503242)

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
Invitae RCV000457633 SCV000552409 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2016-12-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the ACVRL1 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This particular variant was reported in an individual with hereditary hemorrhagic telangiectasia who also had as second variant, p.Glu281*, in ACVRL1 (PMID: 20414677). It was unknown whether these two variants were on the same or different alleles. This variant has been reported in 2 independent individuals affected with hereditary hemorrhagic telangiectasia (PMID: 20414677, Invitae database). In both cases it co-occurred with a second variant in ACVRL1, p.Glu281*, that was proven to be in cis in one of the cases (Invitae database). In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in ACVRL1 are known to be pathogenic (PMID: 15879500). However, without additional functional and/or genetic data, this variant has been classified as Likely 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.