ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.389_391delinsTCT (p.Ala130_Val131delinsValPhe)

dbSNP: rs1591284990
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000818977 SCV000959616 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2022-10-28 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 661539). This variant has not been reported in the literature in individuals affected with CD3G-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.389_391delinsTCT, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the CD3G protein (p.Ala130_Val131delinsValPhe).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282380 SCV002572106 uncertain significance not specified 2022-08-18 criteria provided, single submitter clinical testing Variant summary: CD3G c.389_391delinsTCT (p.Ala130_Val131delinsValPhe) results in an in-frame deletion-insertion that is predicted to delete two amino acids (Ala, Val) from the protein and also inserted two amino acids (Val, Phe). The variant was absent in 251442 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.389_391delinsTCT in individuals affected with Severe Combined Immunodeficiency and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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.