Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000506527 | SCV000601255 | pathogenic | not provided | 2023-03-09 | criteria provided, single submitter | clinical testing | This nonsense variant causes the premature termination of HBB protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in a child affected with beta thalassemia major (PMID: 2458145 (1988)). Based on the available information, this variant is classified as pathogenic. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001078254 | SCV001338370 | pathogenic | beta Thalassemia | 2020-02-17 | criteria provided, single submitter | clinical testing | Variant summary: HBB c.184A>T (p.Lys62X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251424 control chromosomes. c.184A>T has been reported in the literature as an African American variant originally identified in one individual affected with severe transfusion dependent Beta Thalassemia (Gonzalez-Redondo_1988). It has subsequently been cited in the literature and locus specific databases. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic citing the original literature report. Based on the evidence outlined above, the variant was classified as pathogenic. |
Fulgent Genetics, |
RCV002504795 | SCV002816612 | pathogenic | Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; Methemoglobinemia, beta-globin type; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB | 2022-01-26 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000016661 | SCV000036930 | pathogenic | Beta zero thalassemia | 1988-09-01 | no assertion criteria provided | literature only | |
The ITHANET community portal, |
RCV001078254 | SCV001244397 | pathogenic | beta Thalassemia | 2019-11-25 | no assertion criteria provided | curation | |
Natera, |
RCV001078254 | SCV002089214 | pathogenic | beta Thalassemia | 2020-09-15 | no assertion criteria provided | clinical testing |