ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.359G>A (p.Gly120Asp) (rs33947020)

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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 RCV001282298 SCV000603903 likely benign none provided 2020-07-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588047 SCV000697124 uncertain significance not provided 2017-02-20 criteria provided, single submitter clinical testing Variant summary: The HBB c.359G>A (p.Gly120Asp) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant. This variant was found in 5/121386 control chromosomes at a frequency of 0.0000412, which does not exceed the estimated maximal expected allele frequency of a pathogenic HBB variant (0.0111803). This variant has been reported in multiple patients with mild anemia or no hemological abnormalities in heterozygous or homozygous state without clear evidence supporting the pathogenicity of this variant (Schneider_1976, Ibarra_2009, Basak_2014). Heterozygous complex allele c.334G>C-c.359G>A has been reported in five Spanish individuals with no hemological abnormalities (Qin_1994). Studies of the oxygen affinity of the variant of interest showed no abnormalities (Schneider_1976). HGMD lists this variant as a functional polymorphism. Taken together, this variant is classified as VUS-possibly benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588047 SCV000888157 uncertain significance not provided 2020-02-27 criteria provided, single submitter clinical testing

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