Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985727 | SCV001134200 | uncertain significance | not provided | 2024-02-13 | criteria provided, single submitter | clinical testing | The HBA2 c.49A>G (p.Lys17Glu) variant (also known as Hb I) has been described to have normal stability. Individuals who are heterozygous for this variant have a normal clinical presentation (see HbVar (http://globin.bx.psu.edu/hbvar/, and PMIDs: 7803274 (1994), 6085353 (1984), 740406 (1978), 5480848 (1970)). One individual carrying Hb I in both alpha-1 and alpha-2 genes on the same chromosome was also clinically healthy (PMID: 6505702 (1984)). Based on the available information, we are unable to determine the clinical significance of this variant. |
| ARUP Laboratories, |
RCV000985727 | SCV001157421 | likely benign | not provided | 2024-09-30 | criteria provided, single submitter | clinical testing | The Hb I variant (HBA2: c.49A>G; p.Lys17Glu, also known as Lys16Glu when numbered from the mature protein, rs281865555, HbVar ID: 19) is reported in the literature in an individual who also carried an alpha globin deletion (Liebhaber 1984), but it has not been associated with any clinically significant phenotypes (HbVar database and references therein). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The lysine at codon 17 is moderately conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.614). Based on available information, the Hb I variant is considered to be likely benign. References: Link to HbVar database: https://globin.bx.psu.edu/hbvar/menu.html Liebhaber S et al. Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome. Science. 1984; 226(4681):1449-51. |
| OMIM | RCV000016905 | SCV000037176 | other | HEMOGLOBIN I | 2013-03-28 | no assertion criteria provided | literature only | |
| OMIM | RCV000016906 | SCV000037177 | other | HEMOGLOBIN I (BURLINGTON) | 2013-03-28 | no assertion criteria provided | literature only | |
| OMIM | RCV000016907 | SCV000037178 | other | HEMOGLOBIN I (PHILADELPHIA) | 2013-03-28 | no assertion criteria provided | literature only | |
| OMIM | RCV000016908 | SCV000037179 | other | HEMOGLOBIN I (SKAMANIA) | 2013-03-28 | no assertion criteria provided | literature only | |
| OMIM | RCV000016909 | SCV000037180 | other | HEMOGLOBIN I (TEXAS) | 2013-03-28 | no assertion criteria provided | literature only |