ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-137C>T (rs33941377)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000445650 SCV000537283 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029952 SCV000052607 pathogenic Beta thalassemia intermedia 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000781433 SCV000919452 pathogenic Hemoglobinopathy 2017-10-30 criteria provided, single submitter clinical testing Variant summary: The c.-137C>T in HBB gene (a.k.a. -87C>T) is a 5UTR change that involves a highly conserved nucleotide and alters a promoter of this gene. This variant was found in 9/36060 control chromosomes at a frequency of 0.0002496, which does not exceed the estimated maximal expected allele frequency of a pathogenic HBB variant (0.0111803). Ithanet lists this variant in association with + phenotype with relative carrier frequencies as follow: Czech Republic 2%, Slovakia 2%, Germany 1%, United Kingdom 0.2%, Italy 0.1%, and India 0.04%. The variant was found in multiple patients with symptoms ranging from beta-thalassemia major to beta-thalassemia intermedia depending on the second variant in trans and/or presence of alteration in genes encoding a-chain. Functional studies have shown that this variant leads to reduced transcription rate and synthesis of HBB (Kulozik_1991). Taking together, the variant was classified as Pathogenic.

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