ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.147_169dup (p.Leu57fs)

dbSNP: rs2092262555
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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 RCV001213477 SCV001385109 pathogenic X-linked severe combined immunodeficiency 2019-08-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IL2RG are known to be pathogenic (PMID: 9058718, 10794430). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with IL2RG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu57Profs*22) in the IL2RG gene. It is expected to result in an absent or disrupted protein product.

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