ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.394C>A (p.Gln132Lys) (rs33910209)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759798 SCV000889370 uncertain significance not provided 2018-01-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001860 SCV001159574 likely benign not specified 2018-09-23 criteria provided, single submitter clinical testing The HBB c.394C>A; Gln131Lys variant (rs33910209), commonly known as Hb Shelby, is a stable hemoglobin variant with normal oxygen affinity and has not been associated with any significant clinical symptoms in the heterozygous state or in combination with beta(0)-thalassemia, HbS, or HbC (Lutcher 1976, see link to HbVar and references therein). This variant is reported in ClinVar (Variation ID: 15349), and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The glutamine at codon 131 is highly conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Based on available information, the Hb Shelby variant is considered to be likely benign. References: Link to HbVar for Hb Shelby: Lutcher CL et al. Hb Leslie, an unstable hemoglobin due to deletion of glutaminyl residue beta 131 (H9) occurring in association with beta0-thalassemia, HbC, and HbS. Blood. 1976 Jan;47(1):99-112.
OMIM RCV000016593 SCV000036862 other HEMOGLOBIN SHELBY 2017-12-12 no assertion criteria provided literature only
OMIM RCV000016594 SCV000036863 other HEMOGLOBIN LESLIE 2017-12-12 no assertion criteria provided literature only
OMIM RCV000016595 SCV000036864 other HEMOGLOBIN DEACONESS 2017-12-12 no assertion criteria provided literature only

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