ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.259T>C (p.Cys87Arg)

dbSNP: rs1215412653
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 RCV001922387 SCV002177202 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2021-05-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 87 of the CD3G protein (p.Cys87Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant has not been reported in the literature in individuals with CD3G-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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.