ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.230del (p.Ala77fs) (rs281864901)

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 RCV000169256 SCV000220545 likely pathogenic beta Thalassemia 2014-07-23 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000169256 SCV000697099 pathogenic beta Thalassemia 2016-08-16 criteria provided, single submitter clinical testing Variant summary: The HBB c.230delC (p.Ala77Valfs) variant results in a premature termination codon, predicted to cause a truncated or absent HBB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was found in controls at an allele frequency of 1/121392, which does not exceed the estimated maximal expected allele frequency for a pathogenic HBB variant of 1/89 (0.0111803). The variant of interest has been reported in multiple affected individuals via publications, along with reputable databases/clinical laboratories citing the variant as "pathogenic/likely pathogenic." Therefore, the variant of interest has been classified as Pathogenic.
OMIM RCV000016676 SCV000036946 pathogenic beta^0^ Thalassemia 1992-02-01 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508493 SCV000601260 pathogenic not provided 2017-06-30 criteria provided, single submitter clinical testing

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.