ClinVar Miner

Submissions for variant NM_000558.3(HBA1):c.341T>A (p.Leu114His)

gnomAD frequency: 0.00001  dbSNP: rs35654345
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811181 SCV001157414 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001811181 SCV004219816 uncertain significance not provided 2023-05-03 criteria provided, single submitter clinical testing The frequency of this variant in the general population, 0.00015 (5/34326 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in a family with normal hematological parameters and was initially described as being stable (PMID: 3839772 (1985)). The variant was also predicted to be unstable and have a potential negative effect on oxygen binding based on analysis of the protein structure (PMID: 31553106 (2020)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
OMIM RCV000017173 SCV000037445 other HEMOGLOBIN TWIN PEAKS 2016-07-20 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004755739 SCV005349401 uncertain significance HBA1-related disorder 2024-05-14 no assertion criteria provided clinical testing The HBA1 c.341T>A variant is predicted to result in the amino acid substitution p.Leu114His. To our knowledge, this variant has not been reported in the literature in association with disease. This variant is reported in 0.015% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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