ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.187G>A (p.Gly63Ser)

dbSNP: rs755334490
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694313 SCV000822751 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 63 of the CD3G protein (p.Gly63Ser). This variant is present in population databases (rs755334490, 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: 572829). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
New York Genome Center RCV000694313 SCV001761041 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2020-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025189 SCV004920806 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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