Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218893 | SCV001390801 | pathogenic | X-linked severe combined immunodeficiency | 2019-05-01 | criteria provided, single submitter | clinical testing | Disruption of this splice site has been observed in individuals affected with X-linked severe combined immunodeficiency (PMID: 28747913, 29658452). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 3 of the IL2RG gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. 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). |