ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.40A>G (p.Ile14Val)

gnomAD frequency: 0.00004  dbSNP: rs377262966
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796961 SCV000936497 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2018-12-22 criteria provided, single submitter clinical testing 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, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CD3G-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 14 of the CD3G protein (p.Ile14Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine.
PreventionGenetics, part of Exact Sciences RCV003396387 SCV004104768 uncertain significance CD3G-related disorder 2023-02-13 criteria provided, single submitter clinical testing The CD3G c.40A>G variant is predicted to result in the amino acid substitution p.Ile14Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-118215178-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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