ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.70_79+5del

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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 RCV002721314 SCV002999780 likely pathogenic Combined immunodeficiency due to CD3gamma deficiency 2023-12-18 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 2 (c.70_79+5del) of the CD3G 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 CD3G are known to be pathogenic (PMID: 1635567, 17277165, 24910257). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CD3G-related conditions. ClinVar contains an entry for this variant (Variation ID: 1964376). 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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