ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.93-2A>C

dbSNP: rs63750513
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507399 SCV000601336 pathogenic not provided 2016-10-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780315 SCV000917482 pathogenic Hemoglobinopathy 2018-05-11 criteria provided, single submitter clinical testing Variant summary: HBB c.93-2A>C is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a 3-prime acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 246058 control chromosomes. The variant, c.93-2A>C, has been reported in the literature in individuals affected with Beta Thalassemia Major (Old 2001, Fisher 2003, Agarwal 2010, Panja 2017), all of these cases were reported from the Indian Subcontinent. These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078337 SCV001244518 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation
Natera, Inc. RCV001078337 SCV002089234 pathogenic beta Thalassemia 2021-06-01 no assertion criteria provided 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.