ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.52del (p.Leu18fs)

dbSNP: rs2147751877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956149 SCV002245681 pathogenic X-linked severe combined immunodeficiency 2021-05-28 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of X-linked recessive severe combined immunodeficiency (PMID: 27566612). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu18Cysfs*6) in the IL2RG gene. It is expected to result in an absent or disrupted protein product. 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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