ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.17C>A (p.Ala6Asp)

dbSNP: rs34090856
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759776 SCV000889340 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000759776 SCV001160067 uncertain significance not provided 2021-09-08 criteria provided, single submitter clinical testing The Hb J Toronto variant (HBA1 c.17C>A; p.Ala6Asp, also known as or Ala5Asp when numbered from the mature protein, rs34090856) is reported in the literature in the heterozygous state and in the compound heterozygous state with the 3.7kb deletion in individuals without any significant hematological symptoms (see HbVar and references therein, Mahdavi 2012, Van Laer 2014). Aberrant HbA1c measurements have been reported in several individuals with this variant (Van Laer 2014). This variant is reported in ClinVar (Variation ID: 15765), and is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The alanine at codon 6 is weakly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.544). Due to limited information, the clinical significance of this variant is uncertain at this time. References: Link to HbVar for Hb J Tornoto: https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=3&.cgifields=histD Mahdavi M et al. Report of haemoglobin J-Toronto and alpha thalassemia in a family from North of Iran. J Pak Med Assoc. 2012 Apr;62(4):396-8. Van Laer C et al. Aberrant glycated haemoglobin (HbA1c) results leading to haemoglobinopathy diagnosis in four Belgian patients. Acta Clin Belg. 2014 Dec;69(6):456-9.
OMIM RCV000017076 SCV000037348 other HEMOGLOBIN J (TORONTO) 2016-07-20 no assertion criteria provided literature only
Natera, Inc. RCV001831578 SCV002093858 uncertain significance alpha Thalassemia 2021-08-31 no assertion criteria provided clinical testing

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