ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.497G>A (p.Arg166Gln)

gnomAD frequency: 0.00003  dbSNP: rs764084817
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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 RCV001948452 SCV002204769 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2022-06-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 166 of the CD3G protein (p.Arg166Gln). This variant is present in population databases (rs764084817, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CD3G-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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