ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.270-15A>G

dbSNP: rs886039387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255206 SCV000321774 pathogenic not provided 2016-05-23 criteria provided, single submitter clinical testing This variant has been reported previously in association with X-linked SCID (Puck et al., 1997; Kumaki et al., 2000). c.270-15 A>G is predicted to create a cryptic splice acceptor site, which was shown to produce an abnormal message subject to nonsense-mediated mRNA decay (Tassara et al., 1995). This splice variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Labcorp Genetics (formerly Invitae), Labcorp RCV000539319 SCV000637244 pathogenic X-linked severe combined immunodeficiency 2025-01-23 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the IL2RG gene. It does not directly change the encoded amino acid sequence of the IL2RG protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or altered protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with severe combined immunodeficiency (PMID: 8541866, 11129345; internal data). This variant is also known as 284(–15)A→G. ClinVar contains an entry for this variant (Variation ID: 265194). Studies have shown that this variant results in activation of a cryptic splice site, and produces a non-functional protein and/or introduces a premature termination codon (PMID: 8541866). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000539319 SCV005328361 pathogenic X-linked severe combined immunodeficiency 2024-09-25 criteria provided, single submitter clinical testing

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