ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer)

dbSNP: rs1602289631
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
GeneDx RCV001008594 SCV001168367 pathogenic not provided 2019-02-18 criteria provided, single submitter clinical testing The c.225_226insTGCT variant in the IL2RG gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.225_226insTGCT variant causes a frameshift starting with codon Serine 76, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Ser76CysfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.225_226insTGCT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.225_226insTGCT as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001041771 SCV001205408 pathogenic X-linked severe combined immunodeficiency 2020-02-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IL2RG are known to be pathogenic (PMID: 9058718, 10794430). This variant has not been reported in the literature in individuals with IL2RG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser76Cysfs*2) in the IL2RG gene. It is expected to result in an absent or disrupted protein product.

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.