ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.84G>T (p.Glu28Asp) (rs41530750)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507741 SCV000601199 uncertain significance not provided 2020-08-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000510 SCV001157415 likely benign not specified 2019-02-26 criteria provided, single submitter clinical testing The Hb Hekinan II variant (HBA1: c.84G>T; p.Glu28Asp, also known as Glu27Asp when numbered from the mature protein, rs41530750) is described in the literature as a non-pathogenic variant observed in heterozygous individuals without clinical symptoms and with normal hematology (Yao 2013, HbVar database). When observed in individuals with alpha globin deletions (--SEA deletion, -3.7 deletion), Hb Hekinan II is not associated with a worsening of clinical symptoms or more severe hematological parameters (Chunpanich 2004, Fucharoen 2003, Ngiwsara 2004). This variant is reported in ClinVar (Variation ID: 15742) and is found on only two chromosomes in the Genome Aggregation Database. The glutamate at codon 28 is highly conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Based on available information, the Hb Hekinan II variant is considered to be likely benign. References: HbVar link to Hb Hekinan II: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=3011 Chunpanich S et al. Laboratory diagnosis of a compound heterozygosity for Hb Hekinan [alpha27(B8) Glu-Asp] and a deletional alpha-thalassaemia 2 in Thailand. Clin Lab Haematol. 2004 Oct;26(5):355-8. Fucharoen S et al. Complex interaction of Hb Hekinan [alpha27(B8) Glu-Asp] and Hb E [beta26(B8) Glu-Lys] with a deletional alpha-thalassemia 1 in a Thai family. Eur J Haematol. 2003 May;70(5):304-9. Ngiwsara L et al. Two cases of compound heterozygosity for Hb Hekinan [alpha27(B8)Glu-->Asp (alpha1)] and alpha-thalassemia in Thailand. Hemoglobin. 2004 May;28(2):145-50. Yao XY et al. Prevalence and genetic analysis of a-thalassemia and beta-thalassemia in Chongqing area of China. Gene. 2013 Dec 10;532(1):120-4.
OMIM RCV000017047 SCV000037319 other HEMOGLOBIN HEKINAN 2016-07-20 no assertion criteria provided literature only

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