ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-18C>G (rs34135787)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000445652 SCV001363917 pathogenic beta Thalassemia 2019-07-29 criteria provided, single submitter clinical testing Variant summary: HBB c.-18C>G is located in the untranslated mRNA region upstream of the initiation codon. The variant was absent in 250902 control chromosomes (gnomAD). The variant, c.-18C>G, has been reported in the literature in multiple individuals affected with Beta Thalassemia Intermedia (Ho_1996, Traeger-Synodinos_1996, Bento_2000). These data indicate that the variant is likely to be associated with disease. At least two publications reported experimental evidence evaluating an impact on protein function, and demonstrated a moderate decrease in mRNA levels compared to the wild type that supports the mechanisms for causing Beta Thalassemia Intermedia (Ho_1996, Sgourou_2004). One ClinVar submission (evaluation after 2014) cited the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
GeneReviews RCV000445652 SCV000537292 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only

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