ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.320T>G (p.Leu107Arg)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genomics, Royal Prince Alfred Hospital RCV004548630 SCV004102627 pathogenic alpha Thalassemia 2022-09-02 no assertion criteria provided clinical testing This variant was detected in a male patient with hypochromic microcytic anaemia (Hb 131-141g/L, MCV 75-76fL, MCH 24.2-24.5pg). Haemoglobin electrophoresis showed 2 abnormal bands after the A2 position. This c.320T>G variant, leading to a missense change p.(Leu107Arg) in the haemoglobin alpha 2 subunit (HBA2), has not been reported in literature. This variant has not been observed in population database. A different missense variant at the same amino acid position, p.(Leu106Pro) in the homologous haemoglobin alpha 1 subunit (HBA1), also known as Hb Charlieu, also causes microcytosis and hypochromia without anaaemia.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.