ClinVar Miner

Submissions for variant NM_000206.2(IL2RG):c.270-1G>T (rs193922346)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430650 SCV000516115 pathogenic not provided 2015-03-30 criteria provided, single submitter clinical testing The c.270-1 G>T splice site variant in the IL2RG gene destroys the canonical spliceacceptor site in intron 2. It is predicted to cause abnormal gene splicing, either leading to an abnormal messagethat is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is usedfor protein translation. The c.270-1 G>T variant was not observed in approximately 6,500 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not acommon benign variant in these populations. We interpret the c.270-1 G>T variant as pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000030053 SCV000052708 likely pathogenic X-linked severe combined immunodeficiency 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.

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