ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.63C>A (p.His21Gln)

gnomAD frequency: 0.00001  dbSNP: rs281864502
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811609 SCV001159463 likely benign not provided 2021-10-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001811609 SCV004219818 uncertain significance not provided 2023-05-31 criteria provided, single submitter clinical testing In the published literature, this variant has been reported in individuals with hereditary spherocytosis, microcytosis, anemia, and/or iron deficiency (PMID: 21797708 (2011), 33867742 (2021)). The frequency of this variant in the general population, 0.0000052 (1/192980 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is deleterious or benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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