ClinVar Miner

Submissions for variant NM_000206.2(IL2RG):c.720G>A (p.Trp240Ter) (rs1556330234)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538891 SCV000637250 pathogenic X-linked severe combined immunodeficiency 2016-08-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 240 (p.Trp240*) of the IL2RG gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in IL2RG are known to be pathogenic (PMID: 9058718, 10794430). A different variant, c.719G>A, which results in the same truncating effect (p.Trp240*) on the protein and absent IL2RG expression, has been observed in a patient affected with classic X-linked SCID (IL2RGbase, http://research.nhgri.nih.gov/scid/IL2RGbase.shtml). In addition, fourteen unrelated patients with classic X-linked SCID have been observed in IL2RGbase with truncating mutations in exon 5 showing nonsense-mediated decay and absence of IL2RG mRNA (Personal communication, Dr. Jennifer Puck). For these reasons, this variant has been classified as Pathogenic.

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