ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.*113A>G (rs33985472)

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
Counsyl RCV000445642 SCV000790649 likely pathogenic beta Thalassemia 2017-04-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000445642 SCV000917508 pathogenic beta Thalassemia 2021-07-19 criteria provided, single submitter clinical testing Variant summary: HBB c.*113A>G (a.k.a. Poly(A) AATAAA>AATAAG) variant involves the alteration of a non-conserved nucleotide located at the last nucleotide of the polyA tail. Analysis of RNA derived from peripheral blood of patients carrying this mutation revealed several species of extended transcripts, indicating that the mutation interferes with mRNA cleavage (Rund_1991). The variant was absent in 31396 control chromosomes (gnomAD). It has been reported in numerous BTHAL patients (both intermediate and major types) (example: Rund_1991, Shaji_2003, Khelil_2010, and Kalla_1997). Rund et al noted that this mutation leads to a moderate Beta+thalassemia phenotype and patients who are compound heterozygotes for this mutation and a beta0 mutation require transfusions less frequently than most patients with Beta+thalassemia major (Rund_1991). Two other ClinVar submitters (evaluation after 2014) cite the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000016731 SCV000037001 pathogenic Beta-plus-thalassemia 1992-05-15 no assertion criteria provided literature only
GeneReviews RCV000445642 SCV000537302 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only

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.