ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.71C>G (p.Ser24Ter)

dbSNP: rs2134068305
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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 RCV001994521 SCV002231788 pathogenic Combined immunodeficiency due to CD3gamma deficiency 2021-01-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CD3G-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser24*) 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).

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