ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.55+11_55+23delinsGGCTATCATTCTTCTTCAAGGTAAGGGCCTTC

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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 RCV002889398 SCV003234324 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2022-08-26 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the CD3G gene. It does not directly change the encoded amino acid sequence of the CD3G protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CD3G-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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