ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.237C>A (p.Asn79Lys)

dbSNP: rs281860607
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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 RCV000756229 SCV000883974 benign not provided 2021-10-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000756229 SCV000889352 uncertain significance not provided 2021-10-18 criteria provided, single submitter clinical testing The HBA2 c.237C>A (p.Asn79Lys) variant is reported in the published literature in individuals with hemoglobin abnormalities (PMID: 32597250 (2020)) and anemia (21470372 (2011), 22625430 (2012), 25109349 (2014), 33823095 (2021)). In the individuals with anemia, this variant occurred with the HB Constant Spring and alpha 3.7 deletion variants in HBA2 (PMIDs: 21093326 (2011), 22625430 (2012), 33823095 (2021)). It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). 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 benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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