ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.437G>C (p.Arg146Thr)

gnomAD frequency: 0.00001  dbSNP: rs916908630
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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 RCV001307571 SCV001496987 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2020-10-28 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but 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 arginine with threonine at codon 146 of the CD3G protein (p.Arg146Thr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and threonine. 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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