ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.749C>G (p.Thr250Arg)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV004720203 SCV005326354 likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive criteria provided, single submitter clinical testing This variant is a missense change that results in substitution of threonine at amino acid position 250 with arginine. To our knowledge, the p.Thr250Arg variant is absent from patient databases and the medical literature, as well as large population studies (gnomAD v4.0.0). The p.Thr250 is a conserved residue within the core domain, and the majority of in silico tools predict that the p.Thr250Arg change has a damaging effect. While this novel missense variant has not been reported before, we classify it as a likely pathogenic change. This classification is made in consideration of this individual's clinical findings and the observation that this variant is in trans with a known pathogenic variant. Additional information, such as detection in other individuals or functional characterization, may result in variant re-classification in the future.

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.