ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.2237T>G (p.Phe746Cys)

gnomAD frequency: 0.00001  dbSNP: rs377252087
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001344708 SCV001538775 uncertain significance Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2021-01-15 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 not expected to disrupt RAG1 protein function. This variant has not been reported in the literature in individuals with RAG1-related conditions. This variant is present in population databases (rs377252087, ExAC 0.01%). This sequence change replaces phenylalanine with cysteine at codon 746 of the RAG1 protein (p.Phe746Cys). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and cysteine.

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.