ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs33962676
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755547 SCV000603935 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755547 SCV000889373 uncertain significance not provided 2023-07-07 criteria provided, single submitter clinical testing The HBB c.50G>A (p.Gly17Asp, also known as Hb J-Baltimore) variant is described in heterozygous individuals as having a normal clinical presentation. In the published literature, individuals heterozygous for Hb J-Baltimore and Hb S or Hb C have been described as having clinical and hematological findings similar to carriers of Hb S and Hb C alone (PMID: 14117783 (1963)). 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.
GeneDx RCV000755547 SCV002552711 uncertain significance not provided 2022-01-21 criteria provided, single submitter clinical testing Reported in combination with either hemoblobin S, hemoglobin C, or beta thalassemia trait, but limited clinical information is provided on these individuals (Baglioni and Weatherall, 1963; Huisman et al., 1978; Musumeci et al., 1979; Arribalzaga et al., 1996); Observed in the heterozygous state in a mother and daughter with abnormally low HbA1c levels (Gargallo et al., 2010); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also described as Gly16Asp or Hb J-Baltimore using alternate nomenclature (Baglioni and Weatherall, 1963; Gargallo et al., 2010; Riou et al., 2015); This variant is associated with the following publications: (PMID: 27535164, 3808941, 14117783, 8226093, 5125343, 19429541, 31553106, 14092068, 511585, 24200101, 8745435, 19750260, 20206586, 25130136, 700140)
Revvity Omics, Revvity RCV000755547 SCV004235260 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing
OMIM RCV000016400 SCV000036668 other HEMOGLOBIN J (BALTIMORE) 2017-12-12 no assertion criteria provided literature only

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