ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.337C>G (p.His113Asp) (rs34830032)

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 RCV001002173 SCV001160033 uncertain significance none provided 2020-07-31 criteria provided, single submitter clinical testing The HBA1 c.337C>G; p.His113Asp variant (rs34830032), also known as Hb Hopkins-II, is reported in the literature without clinical information, and is reported in the HbVar database (see link and references therein). This variant is reported in ClinVar (Variation ID: 15745), and is only observed on one allele in the Genome Aggregation Database. The histidine at codon 113 is highly conserved, and computational analyses (SIFT, PolyPhen-2) give low confidence predictions of this variant on protein structure/function. Due to limited information, the clinical significance of the Hb Hopkins-II variant is uncertain at this time. REFERENCES Link to HbVar for Hb Hopkins-II: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=173&.cgifields=histD
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283981 SCV001469514 uncertain significance not provided 2020-02-20 criteria provided, single submitter clinical testing
OMIM RCV000017050 SCV000037322 other HEMOGLOBIN HOPKINS 2 2016-07-20 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.