ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1231_1246+4dup

dbSNP: rs1940838178
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 RCV001066276 SCV001231283 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-12-27 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed to segregate with clinical features of hereditary hemorrhagic telangiectasia in a family (PMID: Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 8 of the ACVRL1 gene. It does not directly change the encoded amino acid sequence of the ACVRL1 protein, but it affects a nucleotide within the consensus splice site of the intron.

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.