ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.93-21_96del (rs63750223)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780332 SCV000917503 pathogenic beta Thalassemia 2018-12-10 criteria provided, single submitter clinical testing Variant summary: HBB c.93-21_96del25 involves the deletion of 25 nucleotides overlapping with the intron 1- exon 2 border and results in a complete elimination of the canonical splice acceptor site. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a 3' acceptor site. These predictions were confirmed by a functional study (Orkin_1983). The variant was absent in 121294 control chromosomes (ExAC and publication). The variant, c.93-21_96del25, known generically as the 25 bp deletion or IVS-I 25 bp del, and also referred in the literature as c.93-22_95del25, has been reported in multiple individuals affected with Beta Thalassemia (Orkin_1983, Adekile_2015, Hassan_2014). These data indicate that the variant is very likely to be associated with disease. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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