ClinVar Miner

Submissions for variant NM_000733.4(CD3E):c.103+1G>A

dbSNP: rs201543770
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036329 SCV001199684 likely pathogenic Immunodeficiency 18 2024-01-31 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the CD3E gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CD3E are known to be pathogenic (PMID: 8490660, 15546002). This variant is present in population databases (rs201543770, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CD3E-related conditions. ClinVar contains an entry for this variant (Variation ID: 835442). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Revvity Omics, Revvity RCV001036329 SCV002025123 likely pathogenic Immunodeficiency 18 2021-08-25 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001036329 SCV004807471 likely pathogenic Immunodeficiency 18 2024-03-26 criteria provided, single submitter clinical testing

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