ClinVar Miner

Submissions for variant NC_000023.11:g.(?_71108277)_(71108346_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526001 SCV000637240 pathogenic X-linked severe combined immunodeficiency 2016-12-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 7 of the IL2RG gene. This creates a premature translational stop signal in the last exon that, while this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 86 amino acids of the IL2RG protein. A similar deletion of exon 7 has been reported in the literature in two individuals affected with severe combined immunodeficiency (PMID: 21184155, Invitae). This deletion disrupts the cytoplasmic region of the IL2RG protein. Experimental studies have shown that this region is crucial for tyrosine kinase signal transduction and phosphorylation of Jak1 and Jak3 proteins, and deleting this region disrupts IL2RG protein function in the immune response (PMID: 7683423, 7973659, 7973658). For these reasons, this variant has been classified as Pathogenic.

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