Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003558658 | SCV004294109 | pathogenic | not provided | 2023-11-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu23Valfs*37) in the HBB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HBB are known to be pathogenic (PMID: 23637309). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive beta-thalassemia (PMID: 21232998). ClinVar contains an entry for this variant (Variation ID: 869360). For these reasons, this variant has been classified as Pathogenic. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001078432 | SCV004803493 | pathogenic | beta Thalassemia | 2024-01-17 | criteria provided, single submitter | clinical testing | Variant summary: HBB c.68_74delAAGTTGG (p.Glu23ValfsX37) results in a premature termination codon and is predicted to cause absence of the protein due to nonsense mediated decay, a commonly known mechanism for disease. The variant was absent in 251294 control chromosomes (gnomAD). c.68_74delAAGTTGG has been reported in the literature in individuals affected with Beta Thalassemia (e.g. Neishabury_2011). These data indicate that the variant is very likely associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 21232998). ClinVar contains an entry for this variant (Variation ID: 869360). Based on the evidence outlined above, the variant was classified as pathogenic. |
The ITHANET community portal, |
RCV001078432 | SCV001244651 | pathogenic | beta Thalassemia | 2019-11-25 | no assertion criteria provided | curation |