ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter)

dbSNP: rs2092262517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222990 SCV002500454 likely pathogenic X-linked severe combined immunodeficiency 2022-03-18 criteria provided, single submitter clinical testing Variant summary: IL2RG c.175G>T (p.Glu59X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant is also known as 189G>T in HGVS. Truncations downstream of this position have been classified as pathogenic by our laboratory. Truncations downstream of this position are also associated with Severe Combined Immunodeficiency in HGMD. The variant was absent in 174848 control chromosomes (gnomAD). To our knowledge, no occurrence of c.175G>T in individuals affected with X-Linked Severe Combined Immunodeficiency and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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