Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001078422 | SCV001361821 | pathogenic | beta Thalassemia | 2022-08-08 | criteria provided, single submitter | clinical testing | Variant summary: HBB c.30dupT (p.Ala11CysfsX13) 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 251216 control chromosomes (gnomAD). c.30dupT has been reported in the literature in multiple homozygous and compound heterozygous individuals affected with Beta Thalassemia (e.g. Filon_1995, Ulasli_2015, Unal_2015, Gunes_2021). These data indicate that the variant is very likely to be associated with disease. Two ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Clinical Genetics and Genomics, |
RCV001269760 | SCV001450003 | pathogenic | not provided | 2017-10-18 | criteria provided, single submitter | clinical testing | |
The ITHANET community portal, |
RCV001078422 | SCV001244633 | pathogenic | beta Thalassemia | 2019-11-25 | no assertion criteria provided | curation |