Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001811570 | SCV001157426 | likely benign | not provided | 2024-11-26 | criteria provided, single submitter | clinical testing | The Hb J-Habana variant (HBA2: c.215C>A; p.Ala72Glu, also known as Ala71Glu when numbered from the mature protein; rs281864853, HbVar ID: 102) is reported in the literature in several individuals without clinical or hematological symptoms (HbVar database and references therein). This variant is reported in ClinVar (Variation ID: 15754), but is absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.484). Based on available information, this variant is considered to be likely benign. References: Link to HbVar: https://globin.bx.psu.edu/hbvar/hbvar.html |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001811570 | SCV004219825 | uncertain significance | not provided | 2024-05-28 | criteria provided, single submitter | clinical testing | The HBA2 c.215C>A (p.Ala72Glu) variant (also known as Hb J-Habana)has been reported in the published literature as having normal stability and function (http://globin.bx.psu.edu. PMID: (PMID: 6618889 (1983)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |