ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.458T>C (p.Leu153Pro)

gnomAD frequency: 0.00001  dbSNP: rs1948410884
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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 RCV001897569 SCV002149224 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2020-12-19 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 (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 leucine with proline at codon 153 of the CD3G protein (p.Leu153Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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