ClinVar Miner

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

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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 RCV000780332 SCV000917503 pathogenic beta Thalassemia 2019-07-25 criteria provided, single submitter clinical testing Variant summary: HBB c.93-21_96del25 is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: five predict the variant abolishes a 3 prime acceptor site. A slightly different variant affecting the same region (c.93-22_95del25) was confirmed by a functional study to affect splicing (Orkin_1983), providing supporting evidence for a pathogenic role of c.93-21_96del25. This variant was absent in 251348 control chromosomes (gnomAD). c.93-21_96del25 has been reported in the literature in individuals affected with Beta Thalassemia (Hassan_2014, Aldakeel_2019). These data indicate that the variant may be associated with disease. No other 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.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000780332 SCV001244515 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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