ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.33C>G (p.Ile11Met)

gnomAD frequency: 0.00063  dbSNP: rs143990986
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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 RCV000704598 SCV000833552 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 11 of the CD3G protein (p.Ile11Met). This variant is present in population databases (rs143990986, gnomAD 0.2%). 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: 580921). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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