ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.-82C>T (rs34500389)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507303 SCV000601322 pathogenic not provided 2017-07-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000855594 SCV000697151 uncertain significance not specified 2019-03-18 criteria provided, single submitter clinical testing Variant summary: HBB c.-82C>T is located in the untranscribed region upstream of the HBB gene, one nucleotide upstream of ATAAA box. The variant was absent in 30962 control chromosomes (gnomAD) but has been reported in the literature in individuals affected with Beta Thalassemia (Eng_2007, Hoppe_2013). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Variants involving the same nucleotide and nearby nucleotides (such as c.-82C>A, c.-81A>G, c.-81A>C, etc) are classified as pathogenic variants by Ithanet (database for haemoglobinopathies) and our laboratory (c.-81A>G, c.-80T>A), suggesting the functional importance of this chromosomal region. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078343 SCV001244530 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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