ClinVar Miner

Submissions for variant NM_000215.4(JAK3):c.2350+1G>T

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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 RCV003509363 SCV004313752 likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency 2023-07-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 17 of the JAK3 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with severe combined immunodeficiency (PMID: 8704236). Studies have shown that disruption of this splice site results in skipping of exon 17 and introduces a premature termination codon (PMID: 7659163). The resulting mRNA is expected to undergo nonsense-mediated decay. 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.

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