ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.68A>G (p.Glu23Gly) (rs33936254)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999895 SCV000883977 likely benign not specified 2018-12-17 criteria provided, single submitter clinical testing The HBB c.68A>G; p.Glu23Gly variant (rs33936254), also known as Hb G-Taipei, is reported in the heterozygous state in asymptomatic individuals with normal hematological parameters (Lin 2013, Zhang 2015, Zhang 2017, see link to HbVar and references therein). This variant has not been reported with a pathogenic variant on the opposite chromosome, although, other variants at this codon (Glu22Ala, Glu22Gln) exhibit no clinical symptoms when found with a beta0 pathogenic variant in trans (Agrawal 2007, Koseler 2013, Rohe 1973). The Hb G-Taipei variant is listed in ClinVar (Variation ID: 15178), but is absent from general population databases (Exome Variant Server, Genome Aggregation Database). The glutamic acid at residue 22 is highly conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Based on available information, the Hb G-Taipei variant is considered to be likely benign. References: Link to Hb G-Taipei in HbVar database: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=265&.cgifields=histD Agrawal M et al. Compound heterozygosity of Hb D(Iran) (beta(22) Glu-->Gln) and beta(0)-thalassemia (619 bp-deletion) in India. Eur J Haematol. 2007 Sep;79(3):248-50. Koseler A et al. Molecular studies on the origin of the Hb G-Coushatta mutation in Denizli province of Turkey. Biochem Genet. 2013; 51(1-2):71-5. Lin M et al. Molecular epidemiological survey of hemoglobinopathies in the Wuxi region of Jiangsu Province, eastern China. Hemoglobin. 2013;37(5):454-66. Rohe R et al. Hemoglobin D Iran alpha A2 beta 22 2-Glu leads to Gln in association with thalassemia. Blood. 1973 Sep;42(3):455-62. Zhang J et al. Genetic heterogeneity of the ß-globin gene in various geographic populations of Yunnan in southwestern China. PLoS One. 2015 Apr 7;10(4):e0122956. Zhang XM et al. Effects of hemoglobin variants HbJ Bangkok, HbE, HbG Taipei, and HbH on analysis of glycated hemoglobin via ion-exchange high-performance liquid chromatography. J Clin Lab Anal. 2017 Apr 13.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000756231 SCV001134237 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
OMIM RCV000016356 SCV000036624 other HEMOGLOBIN G (TAIPEI) 2017-12-12 no assertion criteria provided literature only

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