ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.724dup (p.Leu242fs)

dbSNP: rs2133313784
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380349 SCV001578353 pathogenic Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2020-07-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the RAG2 gene (p.Leu242Profs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 286 amino acids of the RAG2 protein. This variant has not been reported in the literature in individuals with RAG2-related conditions. This variant disrupts the C-terminus of the RAG2 protein. Other variant(s) that disrupt this region (p.Glu480*) have been determined to be pathogenic (PMID: 21624848, 29772310, 29772310). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473924 SCV004200538 likely pathogenic Combined immunodeficiency with skin granulomas 2023-10-09 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.