ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.496C>T (p.Arg166Ter)

dbSNP: rs201529449
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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 RCV001956130 SCV002245667 pathogenic Combined immunodeficiency due to CD3gamma deficiency 2022-06-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg166*) in the CD3G gene. It is expected to result in an absent or disrupted protein product. 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 0.006%). This variant has not been reported in the literature in individuals affected with CD3G-related conditions. For these reasons, this variant has been classified as Pathogenic.

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