ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.32T>C (p.Leu11Pro)

dbSNP: rs1204738180
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002005549 SCV002269631 uncertain significance X-linked severe combined immunodeficiency 2021-08-17 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 11 of the IL2RG protein (p.Leu11Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with IL2RG-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IL2RG protein function. 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.

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