ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.101A>G (p.Tyr34Cys)

dbSNP: rs765027477
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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 RCV002008624 SCV002277333 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2023-05-08 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1485385). This variant has not been reported in the literature in individuals affected with CD3G-related conditions. This variant is present in population databases (rs765027477, gnomAD 0.0009%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 34 of the CD3G protein (p.Tyr34Cys).

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