ClinVar Miner

Submissions for variant NM_000206.2(IL2RG):c.-105C>T (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 2018-02-06 criteria provided, single submitter clinical testing This sequence change falls in the promoter region of the IL2RG gene. It does not change the encoded amino acid sequence of the IL2RG protein, but has been reported to disrupt binding of transcription factors to the IL2RG promoter. This variant has been reported in a family affected with common variable immunodeficiency (CVID) (PMID: 26525228). Experimental studies have shown that this sequence change disrupts γc expression and abrogates normal binding of the ETS transcription factor (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.