ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.*93A>T

gnomAD frequency: 0.00002  dbSNP: rs901033731
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 RCV000759787 SCV000889354 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780323 SCV000917492 uncertain significance not specified 2019-02-01 criteria provided, single submitter clinical testing Variant summary: HBB c.*93A>T is located in the untranslated mRNA region downstream of the termination codon. The variant was absent in 30982 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.*93A>T in individuals affected with Hemoglobinopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000780323 SCV001158032 uncertain significance not specified 2018-11-28 criteria provided, single submitter clinical testing The HBB c.*93A>T variant (rs901033731), to our knowledge, is not reported in the medical literature or gene specific databases. This variant occurs in the 3' untranslated region at a nucleotide that is weakly conserved. It occurs 15bp upstream of the poly(A) signal, so does not directly alter the signal sequence. It does not introduce any cryptic splice signals. Although there is no evidence predicting that this alteration is deleterious, functional and/or genetic studies would be needed to determine its clinical significance with certainty.

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.