Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000548638 | SCV000639670 | likely pathogenic | Immunodeficiency 67 | 2022-10-17 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This deletion eliminates 84 C-terminal amino acid residues of the IRAK4 protein, including a large portion of the kinase domain, which is known to be required for normal IRAK4 protein function (PMID: 24316379). While experimental studies testing the effect of this particular deletion have not been published, it is likely that this deletion would lead to a dysfunctional protein. This variant has not been reported in the literature in individuals affected with IRAK4-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 10-12 of the IRAK4 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. |