ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.86C>T (p.Thr29Met)

gnomAD frequency: 0.00009  dbSNP: rs375921454
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000924456 SCV001069970 benign X-linked severe combined immunodeficiency 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029499 SCV004886850 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.86C>T (p.T29M) alteration is located in exon 1 (coding exon 1) of the IL2RG gene. This alteration results from a C to T substitution at nucleotide position 86, causing the threonine (T) at amino acid position 29 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000924456 SCV002087237 likely benign X-linked severe combined immunodeficiency 2020-11-06 no assertion criteria provided clinical testing

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.