Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Integrated Genetics/Laboratory Corporation of America | RCV000030005 | SCV000052660 | pathogenic | Beta thalassemia major | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Pathogenic. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000505898 | SCV000601329 | pathogenic | not provided | 2016-09-07 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000506613 | SCV000603942 | pathogenic | not specified | 2018-08-06 | criteria provided, single submitter | clinical testing | The HBB c.92+5G>T variant (rs33915217), also known as IVS-I-5 (G->T), has been reported in multiple patients with severe beta(+) thalassemia (Atweh 1987, HbVar database and references therein). Functional studies indicate that the variant causes aberrant splicing of the HBB RNA and reduction of full-length mRNA transcripts (Atweh 1987). The variant is listed as pathogenic in ClinVar (Variation ID: 15448), and observed once in the Genome Aggregation Database (1/245966 alleles). Computational algorithms (GeneSplicer, Human Splicing Finder, MaxEntScan, MutationTaster, NetGene2, NNSplice, SpliceSiteFinder-like) predict that the variant reduces the efficiency of the nearby canonical splice donor, consistent with functional studies. Based on the above information, the variant is classified as pathogenic. References: Link to HbVar database for IVS-I-5 (G->T): http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=825 Atweh G et al. A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing. Blood. 1987; 70(1):147-51. |
OMIM | RCV000016706 | SCV000036976 | pathogenic | Beta-plus-thalassemia | 1989-03-01 | no assertion criteria provided | literature only | |
Counsyl | RCV000984182 | SCV001132216 | pathogenic | beta Thalassemia | 2015-09-03 | no assertion criteria provided | clinical testing | |
The ITHANET community portal, |
RCV000984182 | SCV001244507 | pathogenic | beta Thalassemia | 2019-11-25 | no assertion criteria provided | curation |