ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.91_93del (p.Glu31del) (rs281864560)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506938 SCV000601224 likely pathogenic not provided 2017-03-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287754 SCV001474474 likely pathogenic none provided 2019-08-20 criteria provided, single submitter clinical testing The HBA2 c.91_93delGAG; p.Glu31del variant (rs281864560), also known as codon 30 (-GAG) or as Glu30del when numbered from the mature protein, is reported in the literature in multiple individuals affected with Hb H disease in trans to large deletions of HBA1 and HBA2 (Chan 1997, Chen 2000, Yang 2013). The p.Glu31del variant is also reported in heterozygous individuals with mild microcytosis and hypochromia (Yang 2013, HbVar database). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes a single glutamate residue, leaving the rest of the protein in-frame. Based on available information, this variant is considered to be likely pathogenic. References: HbVar database link to p.Glu31del: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=2776 Chan V et al. Molecular defects in Hb H hydrops fetalis. Br J Haematol. 1997 Feb;96(2):224-8. Chen FE et al. Genetic and clinical features of hemoglobin H disease in Chinese patients. N Engl J Med. 2000 Aug 24;343(8):544-50. Yang Y and Li DZ. CODON 30 (-GAG) (a2): hematological parameters in heterozygotes and also patients with Hb H disease. Hemoglobin. 2013;37(6):599-603.

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