ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-1G>T (rs33952266)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506832 SCV000601281 pathogenic not provided 2016-12-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001078269 SCV001360658 likely pathogenic beta Thalassemia 2019-08-07 criteria provided, single submitter clinical testing Variant summary: HBB c.316-1G>T 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. 5/5 computational tools predict that the variant significantly impacts normal splicing by abolishing a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251150 control chromosomes (gnomAD). c.316-1G>T has been reported in the literature in individuals affected with Beta Thalassemia (Najmabadi_2002). These data indicate that the variant may 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 a clinical-significance assessment for this variant to ClinVar (after 2014) and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078269 SCV001244417 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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.