ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.431_433delinsGGG (p.Gln144_Met145delinsArgVal)

dbSNP: rs1602289405
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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 RCV003511073 SCV004276646 uncertain significance X-linked severe combined immunodeficiency 2018-10-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with IL2RG-related disease. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant is not present in population databases (ExAC no frequency). This variant, c.431_433delinsGGG, is a complex sequence change that results in the replacement of 2 amino acids of the IL2RG protein (p.Gln144_Met145delinsArgVal).

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