ClinVar Miner

Submissions for variant NM_000206.2(IL2RG):c.270-1G>T (rs193922346)

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
Integrated Genetics/Laboratory Corporation of America RCV000030053 SCV000052708 likely pathogenic X-linked severe combined immunodeficiency 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
GeneDx RCV000430650 SCV000516115 pathogenic not provided 2015-03-30 criteria provided, single submitter clinical testing The c.270-1 G>T splice site variant in the IL2RG gene destroys the canonical spliceacceptor site in intron 2. It is predicted to cause abnormal gene splicing, either leading to an abnormal messagethat is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is usedfor protein translation. The c.270-1 G>T variant was not observed in approximately 6,500 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not acommon benign variant in these populations. We interpret the c.270-1 G>T variant as pathogenic.

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.