ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.226del (p.Leu76fs) (rs34218908)

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
Integrated Genetics/Laboratory Corporation of America RCV000586222 SCV000697097 likely pathogenic beta Thalassemia 2016-02-08 criteria provided, single submitter clinical testing Variant summary: Variant is a deletion of a nucleotide resulting in a frameshift mutation and mutation taster predicts this variant to be disease causing. Frameshift mutations in HBB are known mechanism of the disease (GeneReviews). It is absent from the large and broad cohorts of the ExAC project while it was observed in a patient with transfusion dependent sever thalassemia in homozygosity indicating a pathogenic impact (Basak_1992). It was also observed in a patient with 0 phenotype in compound heterozygosity with a codon 5 mutation (Sarookhani_2010). Considering all evidence, the variant was classified as Likely Pathogenic.

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.