ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.1544C>A (p.Thr515Asn)

gnomAD frequency: 0.00001  dbSNP: rs1017593785
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 RCV002027123 SCV002312886 uncertain significance Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2021-07-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RAG2 protein function. This variant has not been reported in the literature in individuals affected with RAG2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with asparagine at codon 515 of the RAG2 protein (p.Thr515Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine.
Ambry Genetics RCV004046881 SCV004936075 uncertain significance Inborn genetic diseases 2023-11-03 criteria provided, single submitter clinical testing The c.1544C>A (p.T515N) alteration is located in exon 2 (coding exon 1) of the RAG2 gene. This alteration results from a C to A substitution at nucleotide position 1544, causing the threonine (T) at amino acid position 515 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.