ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.338C>T (p.Ala113Val)

dbSNP: rs2134070662
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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 RCV001988845 SCV002282765 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2022-07-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CD3G-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 113 of the CD3G protein (p.Ala113Val). ClinVar contains an entry for this variant (Variation ID: 1491711). 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. 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 valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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