Total submissions: 3
| 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, |
RCV000506938 | SCV001474474 | likely pathogenic | not provided | 2023-04-12 | criteria provided, single submitter | clinical testing | The HBA2 c.91_93delGAG; p.Glu31del variant (also known as codon 30 (-GAG) or as Glu30del when numbered from the mature protein, rs281864560, HbVar ID: 2776) 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 the 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: Link to HbVar database: https://globin.bx.psu.edu/hbvar/menu.html Chan V et al. Molecular defects in Hb H hydrops fetalis. Br J Haematol. 1997 Feb;96(2):224-8. PMID: 9029003. 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. PMID: 10954762. 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. PMID: 23822871. |
| OMIM | RCV002275044 | SCV000043897 | other | HEMOGLOBIN H HYDROPS FETALIS SYNDROME | 2022-09-12 | no assertion criteria provided | literature only |