ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.773-3C>G (rs1592223964)

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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000915 SCV001158002 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-12-01 criteria provided, single submitter clinical testing The ACVRL1 c.773-3C>G variant has been described in at least one individual with hereditary hemorrhagic telangiectasia (HHT; Gedge 2007). It is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This is an intronic variant in a moderately conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic acceptor splice site that would result in an out of frame protein product if preferentially used over the canonical acceptor splice site. Based on available information, this variant is considered likely pathogenic. REFERENCES Gedge F et al. Clinical and Analytical Sensitivities in Hereditary Hemorrhagic Telangiectasia Testing and a Report of de Novo Mutations. J Mol Diagn. 2007 Apr; 9(2): 258-265.

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.