ClinVar Miner

Submissions for variant NM_000206.2(IL2RG):c.594+2_594+3del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797103 SCV000936644 pathogenic X-linked severe combined immunodeficiency 2018-12-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the IL2RG gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be hemizygous in an individual with clinical features of severe combined immunodeficiency (Invitae). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IL2RG are known to be pathogenic (PMID: 9058718, 10794430). For these reasons, this variant has been classified as Pathogenic.

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