Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001885384 | SCV002171269 | pathogenic | not provided | 2022-07-03 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this premature translational stop signal affects IL6ST function (PMID: 32207811). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This sequence change creates a premature translational stop signal (p.Ile719Asnfs*2) in the IL6ST gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 200 amino acid(s) of the IL6ST protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with autosomal dominant hyper IgE syndrome (PMID: 32207811). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1342187). |
| OMIM | RCV001838856 | SCV002098409 | pathogenic | Hyper-IgE recurrent infection syndrome 4A, autosomal dominant | 2023-10-05 | no assertion criteria provided | literature only |