ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.294A>T (p.Gln98His)

gnomAD frequency: 0.00001  dbSNP: rs201795915
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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 RCV002026025 SCV002290102 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 98 of the CD3G protein (p.Gln98His). This variant is present in population databases (rs201795915, gnomAD 0.004%). 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: 1504218). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine 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.

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