Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001220928 | SCV001392941 | likely pathogenic | Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 2022-02-04 | criteria provided, single submitter | clinical testing | This variant disrupts the C-terminus of the RAG2 protein. Other variant(s) that disrupt this region (p.His468Argfs*16, p.Glu480*, p.Arg523Glufs*49) have been observed in individuals with RAG2-related conditions (PMID: 21624848, 24144642, 26915675). This suggests that this may be a clinically significant region of the protein. ClinVar contains an entry for this variant (Variation ID: 949466). This variant has not been reported in the literature in individuals affected with RAG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp430*) in the RAG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 98 amino acid(s) of the RAG2 protein. 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. |
| Fulgent Genetics, |
RCV002491690 | SCV002776107 | likely pathogenic | Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 2022-03-29 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003473774 | SCV004200549 | likely pathogenic | Combined immunodeficiency with skin granulomas | 2023-05-23 | criteria provided, single submitter | clinical testing |