ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.359_360insT (p.Lys120fs)

dbSNP: rs2092261347
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Total submissions: 2
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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 RCV001260353 SCV001437294 likely pathogenic X-linked severe combined immunodeficiency 2020-09-14 criteria provided, single submitter clinical testing Variant summary: IL2RG c.359_360insT (p.Lys120AsnfsX48; legacy name: c.373_374insT p.Lys98AsnfsX48) 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. The variant was absent in 183442 control chromosomes (gnomAD). c.359_360insT has been reported in the literature in individuals affected with X-Linked Severe Combined Immunodeficiency (Niemela_2000). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has 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.
GeneDx RCV002274165 SCV002559278 pathogenic not provided 2022-08-04 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 10794430)

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