ClinVar Miner

Submissions for variant NM_000206.2(IL2RG):c.-105C>T

dbSNP: rs1396169268
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
Invitae RCV000698228 SCV000826880 uncertain significance X-linked severe combined immunodeficiency 2024-01-15 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the IL2RG gene. It does not change the encoded amino acid sequence of the IL2RG protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has been observed in individual(s) with common variable immunodeficiency (CVID) (PMID: 26525228). ClinVar contains an entry for this variant (Variation ID: 575886). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects IL2RG function (PMID: 26525228). 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.

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.