ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.92+2T>A (rs33956879)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506130 SCV000601326 pathogenic not provided 2017-07-10 criteria provided, single submitter clinical testing
Counsyl RCV000665219 SCV000789297 pathogenic beta Thalassemia 2017-01-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000665219 SCV001360655 pathogenic beta Thalassemia 2019-05-06 criteria provided, single submitter clinical testing Variant summary: HBB c.92+2T>A 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: Four predict the variant abolishes a 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251218 control chromosomes. c.92+2T>A has been reported in the literature in multiple individuals affected with hemoglobin disorders (Bilgen_2011, Hoppe_2013). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000016739 SCV000037009 pathogenic beta^0^ Thalassemia 1990-09-01 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000665219 SCV001244438 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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