ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.594+5G>A

dbSNP: rs2147749578
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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 RCV002006682 SCV002296837 likely pathogenic X-linked severe combined immunodeficiency 2022-08-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the c.594+5G nucleotide in the IL2RG gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (Invitae). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1506371). This variant has been observed in individuals with severe combined immunodeficiency (PMID: 9058718; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 4 of the IL2RG gene. It does not directly change the encoded amino acid sequence of the IL2RG protein. It affects a nucleotide within the consensus splice site.

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