ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.126del (p.Thr43fs)

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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 RCV003509059 SCV004299602 pathogenic X-linked severe combined immunodeficiency 2023-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr43Profs*28) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with severe combined immunodeficiency (PMID: 9058718). This variant is also known as 140delG. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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