ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.452T>C (p.Leu151Pro)

dbSNP: rs137852511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000010711 SCV004299597 uncertain significance X-linked severe combined immunodeficiency 2022-11-28 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 151 of the IL2RG protein (p.Leu151Pro). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 10028). This variant is also known as T466C. This missense change has been observed in individual(s) with IL2RG-related conditions (PMID: 18728247). This variant is not present in population databases (gnomAD no frequency).
OMIM RCV000010711 SCV000030937 pathogenic X-linked severe combined immunodeficiency 2008-11-15 no assertion criteria provided literature only

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