ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.152A>G (p.Lys51Arg)

gnomAD frequency: 0.00009  dbSNP: rs145778395
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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 RCV001361689 SCV001557671 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2022-02-28 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 51 of the CD3G protein (p.Lys51Arg). This variant is present in population databases (rs145778395, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CD3G-related conditions. ClinVar contains an entry for this variant (Variation ID: 1053355). 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 tolerated. 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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