Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547792 | SCV000638117 | pathogenic | Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 2022-04-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RAG2 protein in which other variant(s) (p.Glu480*) have been determined to be pathogenic (PMID: 21624848, 29772310). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 463972). This variant has not been reported in the literature in individuals affected with RAG2-related conditions. This variant is present in population databases (rs748727021, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu199*) in the RAG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 329 amino acid(s) of the RAG2 protein. |
Natera, |
RCV001834778 | SCV002093614 | pathogenic | Histiocytic medullary reticulosis | 2021-08-02 | no assertion criteria provided | clinical testing |