ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.115+1G>T

dbSNP: rs2147751762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen RCV004765357 SCV005375408 pathogenic X-linked severe combined immunodeficiency 2024-05-28 reviewed by expert panel curation The c.115+1G>T (NM_000206.3) variant in IL2RG occurs within the canonical donor splice site (+1) of intron 1. It is expected to disrupt RNA splicing, disrupt the reading frame, and is predicted to undergo NMD. (PVS1). The variant is absent in gnomAD v4 (PM2_supporting). Male patient (0.5 pt.) with SCID (0.5 pt.), exome sequencing conducted (1 pt.), T-B+NK- lymphocyte subset profile (0.5 pt.); total :2.5 pts (PP4_Moderate) (PMID: 9058718). In summary, this variant meets the criteria to be classified as a Pathogenic variant for X-linked severe combined immunodeficiency due to IL2RG deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP: PVS1,PM2_supporting,PP4_Moderate (VCEP specifications version 1).
Revvity Omics, Revvity RCV001783476 SCV002023154 pathogenic not provided 2020-04-03 criteria provided, single submitter clinical testing

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