ClinVar Miner

Submissions for variant NM_000206.2(IL2RG):c.865C>T (p.Arg289Ter) (rs137852508)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030058 SCV000052713 pathogenic X-linked severe combined immunodeficiency 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
GeneDx RCV000255488 SCV000321752 pathogenic not provided 2016-09-29 criteria provided, single submitter clinical testing The R289X nonsense variant in the IL2RG gene has been reported previously in association with X-linked SCID (Noguchi et al., 1993; Pepper et al., 1995; Morelon et al., 1996). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the presence of the R289X variant is consistent with a diagnosis of X-linked SCID.
GeneReviews RCV000030058 SCV000267137 pathogenic X-linked severe combined immunodeficiency 2016-04-14 no assertion criteria provided literature only

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