ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.199A>G (p.Lys67Glu)

dbSNP: rs34165323
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985737 SCV001134213 likely pathogenic not provided 2022-09-18 criteria provided, single submitter clinical testing It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, individuals heterozygous for this variant present with chronic mild hemolytic anemia (PMID: 35898763 (2022), 7928379 (1994), 3583764 (1987), 5791730 (1969)). In a functional study, this variant exhibited minor alterations in function in an assay that evaluated oxidation and reduction rates (PMID: 7407240 (1980)). 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 damaging. Based on the available information, this variant is classified as likely pathogenic.
OMIM RCV000016390 SCV000036658 pathogenic Hemoglobinopathy 1971-04-27 no assertion criteria provided literature only

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