ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.50G>A (p.Gly17Asp) (rs33962676)

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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 RCV000508165 SCV000603935 benign not specified 2018-07-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755547 SCV000889373 uncertain significance not provided 2018-12-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000508165 SCV000917499 uncertain significance not specified 2018-11-29 criteria provided, single submitter clinical testing Variant summary: HBB c.50G>A (p.Gly17Asp) results in a non-conservative amino acid change located in the Globin of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.5e-05 in 276954 control chromosomes (gnomAD). The variant, c.50G>A, has been reported in the literature in at least 6 compound heterozygotes carrying the variant of interest and HbS (Baglioni_1963, Huisman_1978). The percentage of abnormal hemoglobin was increased in individuals with a compound heterozygous SX genotype, where X could be p.Gly17Asp. The variant also has been reported in 3 compound heterozygotes with symptoms of beta-thalassemia trait (Musumeci_1979, Arribalzaga_1996). These report(s) do not provide unequivocal conclusions about association of the variant with Hemoglobinopathy. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS.
OMIM RCV000016400 SCV000036668 other HEMOGLOBIN J (BALTIMORE) 2017-12-12 no assertion criteria provided literature only

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