ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1429-8C>G

dbSNP: rs376169815
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286942 SCV001473571 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2020-04-29 criteria provided, single submitter clinical testing The ENG c.1429-8C>G variant (rs376169815), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on only four chromosomes (4/278642 alleles) in the Genome Aggregation Database. 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 weakening the nearby canonical acceptor splice site; however, RNA studies would be required to confirm this. Given the lack of clinical and functional data, the significance of the c.1429-8C>G variant is uncertain at this time.
Invitae RCV003759039 SCV004398004 likely benign Hereditary hemorrhagic telangiectasia 2023-03-22 criteria provided, single submitter clinical testing

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.