ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter)

dbSNP: rs281864550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001800864 SCV000885545 pathogenic not provided 2023-06-26 criteria provided, single submitter clinical testing The HBA2 c.75T>G; p.Tyr25Ter variant (also known as Codon 24 (T>G) or Tyr24Ter when numbered from the mature protein, rs281864550, HbVar ID: 2750) is reported in an individual with microcytic anemia who also carried one copy of the 3.7 kb deletion (Giordano 2010). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The variant introduces a premature termination codon, and is predicted to result in a truncated protein or an absent transcript. Based on the above information, the variant is classified as pathogenic. References: Link to HbVar database: https://globin.bx.psu.edu/hbvar/menu.html Giordano P et al. Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening. Hemoglobin. 2010; 34(4):354-65. PMID: 20642333.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800864 SCV002047303 pathogenic not provided 2021-01-14 criteria provided, single submitter clinical testing The variant causes the premature termination of HBA2 protein synthesis. This variant is reported to be associated with mild alpha-thalassemia in the published literature (PMID: 20642333 (2010)).
Natera, Inc. RCV001275679 SCV001461037 pathogenic alpha Thalassemia 2020-09-16 no assertion criteria provided clinical testing

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