ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.73T>G (p.Tyr25Asp)

dbSNP: rs281864821
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genomics, Royal Prince Alfred Hospital RCV003110192 SCV003761544 pathogenic alpha Thalassemia 2023-02-02 no assertion criteria provided clinical testing This missense variant is detected in an adult patient with normal haemoglobin level, but with microcytic, hypochromic red blood cells (MCV 75 ref. 80-100; MCH 24.5 ref 27-32). Haemoglobin electrophoresis and iron studies were normal. Normal bilirubin level. No deletion was detected in the haemoglobin alpha locus, and no mutation was detected in the haemoglobin beta gene. The variant is reported on the HbVar database as Hb Creve Coeur, and is reported to be mildly stable with normal oxygen affinity. A different missense variant, p.(Tyr25His), known as Hb Luxembourg, is reported as a mildly unstable variant haemoglobin (PMID: 2599879, 1917540).

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