ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.3G>T (p.Met1Ile)

dbSNP: rs33930702
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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998643 SCV005625772 likely pathogenic not provided 2023-09-27 criteria provided, single submitter clinical testing The HBB c.3G>T variant disrupts the translation initiation codon of the HBB mRNA and is predicted to interfere with HBB protein synthesis. In the published literature, this variant has been reported in individuals with beta thalassemia (PMID: 8144357 (1993), 8718703 (1995)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078378 SCV001244576 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.