ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.128T>C (p.Phe43Ser)

dbSNP: rs34378160
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757359 SCV000885552 pathogenic not provided 2017-12-15 criteria provided, single submitter clinical testing
GeneDx RCV000757359 SCV002588280 pathogenic not provided 2022-03-25 criteria provided, single submitter clinical testing Identified in a 6 month old male with hemolytic anemia and cyanosis in published literature (Park et al., 2012); Published functional studies suggest a damaging effect resulting in lower oxygen affinity and increased 2,3-DPG concentration (May et al., 1975); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as Hb Hammersmith; This variant is associated with the following publications: (PMID: 1911375, 19429541, 24471820, 1201210, 29084024, 22217314)
OMIM RCV000016371 SCV000036639 other HEMOGLOBIN HAMMERSMITH 2017-12-12 no assertion criteria provided literature only
OMIM RCV000016372 SCV000036640 other HEMOGLOBIN CHIBA 2017-12-12 no assertion criteria provided literature only
OMIM RCV000016373 SCV000036641 pathogenic Heinz body anemia 1988-06-01 no assertion criteria provided literature only
Natera, Inc. RCV001831570 SCV002089224 pathogenic beta Thalassemia 2017-03-17 no assertion criteria provided 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.