Total submissions: 5
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, |
RCV000665219 | SCV001244438 | pathogenic | beta Thalassemia | 2019-11-25 | no assertion criteria provided | curation |