ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.13A>T (p.Lys5Ter)

dbSNP: rs1948335884
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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 RCV001239548 SCV001412428 pathogenic Combined immunodeficiency due to CD3gamma deficiency 2021-03-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys5*) in the CD3G gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CD3G-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in CD3G are known to be pathogenic (PMID: 1635567, 17277165, 24910257). For these reasons, this variant has been classified as Pathogenic.

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