ClinVar Miner

Submissions for variant NM_000206.2(IL2RG):c.270-15A>G (rs886039387)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255206 SCV000321774 pathogenic not provided 2016-05-23 criteria provided, single submitter clinical testing This variant has been reported previously in association with X-linked SCID (Puck et al., 1997; Kumaki et al., 2000). c.270-15 A>G is predicted to create a cryptic splice acceptor site, which was shown to produce an abnormal message subject to nonsense-mediated mRNA decay (Tassara et al., 1995). This splice variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Invitae RCV000539319 SCV000637244 pathogenic X-linked severe combined immunodeficiency 2016-09-20 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the IL2RG gene. It does not directly change the encoded amino acid sequence of the IL2RG protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in several individuals affected with severe combined immunodeficiency (PMID: 8541866, 11129345). Experimental studies have shown that this intronic change causes aberrant splicing in the mRNA as shown by RT-PCR on RNA B-cell line of an individual with this variant (PMID: 8541866, 9058718, 11129345). For these reasons, this variant has been classified as Pathogenic.

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