ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) (rs34090856)

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Total submissions: 3
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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 likely benign not provided 2018-07-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002194 SCV001160067 uncertain significance none provided 2020-07-24 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 (Crookston 1965, 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 general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The alanine at codon 6 is weakly conserved, and computational algorithms (SIFT, PolyPhen2) predict that this variant is tolerated. Due to limited information, the clinical significance of this variant is uncertain at this time. References: Crookston J et al. A new haemoglobin, J Toronto (alpha-5 alanine to aspartic acid). Nature. 1965 Dec 11;208(5015):1059-61. 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

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