ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.60C>A (p.Asn20Lys)

dbSNP: rs63750840
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811149 SCV002047750 likely benign not provided 2021-04-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526596 SCV005039657 uncertain significance not specified 2024-03-20 criteria provided, single submitter clinical testing Variant summary: HBB c.60C>A (p.Asn20Lys, also known as Hb D Ouled Rabah) results in a non-conservative amino acid change located in the Globin domain (IPR000971) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251238 control chromosomes in gnomAD v2. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.60C>A has been reported in the literature along with a VUS missense p.Glu23Gln in individuals affected with Beta Thalassemia (example, Elion_1973). These report(s) do not provide unequivocal conclusions about association of the variant with Beta Thalassemia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Additionally, p.Asn20Ser has been evaluated associated with disease as a splice-site variant, however such indirect evidence cannot be used for c.60C>A, as consensus agreement among computation tools predict no significant impact on normal splicing of this variant. The following publication have been ascertained in the context of this evaluation (PMID: 4719147). ClinVar contains an entry for this variant (Variation ID: 15153). Based on the evidence outlined above, the variant was classified as uncertain significance.
OMIM RCV000016321 SCV000036589 other HEMOGLOBIN D (OULED RABAH) 2017-12-12 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.