ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs775704953
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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 condition 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

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