ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.307A>C (p.Ser103Arg)

gnomAD frequency: 0.00001  dbSNP: rs41321052
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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 RCV001811709 SCV002049388 likely benign not provided 2022-02-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001811709 SCV004219828 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing The frequency of this variant in the general population, 0.0000081 (2/248256 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In vitro studies have shown that Hb Manitoba I is mildly unstable and has reduced dissociation (PMID: 7803274 (1994), 5452728 (1970)). Individuals heterozygous for this variant have a normal clinical presentation, with Hb Manitoba I accounting for 19% of total hemoglobin (PMID: 11791879 (2001), 7803274 (1994), 6547932 (1984), 5452728 (1970)). 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.
Fulgent Genetics, Fulgent Genetics RCV005006061 SCV005642317 uncertain significance Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Erythrocytosis, familial, 7 2024-06-11 criteria provided, single submitter clinical testing

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