ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.93-21G>A (rs35004220)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030008 SCV000052663 pathogenic Beta thalassemia major 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507963 SCV000603912 pathogenic not specified 2018-07-03 criteria provided, single submitter clinical testing The HBB c.93-21G>A variant (also known as IVS-I-110 G>A) has been identified in multiple patients diagnosed with beta+ thalassemia (Spritz 1981, Westaway 1981, Kaplan 1990), and is one of the most common beta-thalassemia alleles in Mediterranean countries (Baysal 1992, HbVar database and references therein). REFERENCES Link to HbVar database for IVS-I-110 (G->A): http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=827 Baysal E et al. The beta-thalassaemia mutations in the population of Cyprus. Br J Haematol. 1992; 81(4):607-9. Kaplan F et al. Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes. Am J Hum Genet. 1990; 46(1):126-32. Spritz R et al. Base substitution in an intervening sequence of a beta+-thalassemic human globin gene. Proc Natl Acad Sci U S A. 1981; 78(4):2455-9. Westaway D et al. An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene. Nucleic Acids Res. 1981; 9(8):1777-88.
Fulgent Genetics,Fulgent Genetics RCV000763251 SCV000893888 pathogenic Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Susceptibility to malaria; beta Thalassemia; Methemoglobinemia, beta-globin type; Erythrocytosis 6, familial 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000799079 SCV000938726 pathogenic not provided 2019-12-27 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the HBB gene. It does not directly change the encoded amino acid sequence of the HBB protein. This variant is present in population databases (rs35004220, ExAC 0.03%). This variant has been observed to be homozygous and in combination with other pathogenic HBB variants in many individuals and families affected with HBB-related conditions (PMID: 28391758, 2200760, 1967205, 28366028). This variant is also known as IVS-I-110G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 15454). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001004346 SCV001163281 pathogenic Hb SS disease criteria provided, single submitter clinical testing
Myriad Women's Health, Inc. RCV000020343 SCV001194010 pathogenic beta Thalassemia 2019-10-18 criteria provided, single submitter clinical testing NM_000518.4(HBB):c.93-21G>A is classified as pathogenic and is associated with beta thalassemia. Sources cited for classification include the following: PMID 2200760, 1390250, 8330981, 1967205, 1390250, 2200760, 6264477, 6264391. Classification of NM_000518.4(HBB):c.93-21G>A is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000799079 SCV001248105 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000799079 SCV001251768 pathogenic not provided 2020-05-03 criteria provided, single submitter clinical testing
OMIM RCV000016712 SCV000036982 pathogenic Beta-plus-thalassemia 1990-01-01 no assertion criteria provided literature only
GeneReviews RCV000020343 SCV000040719 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Pediatric Molecular Hematology,Schneider Children's Medical Center of Israel RCV000020343 SCV000579457 pathogenic beta Thalassemia no assertion criteria provided clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000020343 SCV001244516 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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