ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.281C>T (p.Ser94Leu)

gnomAD frequency: 0.00003  dbSNP: rs775704953
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000941304 SCV001087187 benign X-linked severe combined immunodeficiency 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372919 SCV004093768 uncertain significance Inborn genetic diseases 2023-09-13 criteria provided, single submitter clinical testing The c.281C>T (p.S94L) alteration is located in exon 3 (coding exon 3) of the IL2RG gene. This alteration results from a C to T substitution at nucleotide position 281, causing the serine (S) at amino acid position 94 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003895722 SCV004714750 likely benign IL2RG-related disorder 2023-12-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000941304 SCV001467118 likely benign X-linked severe combined immunodeficiency 2020-10-10 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.