ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.170A>C (p.Lys57Thr)

dbSNP: rs1555121379
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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 RCV000651961 SCV000773818 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2017-11-15 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 57 of the CD3G protein (p.Lys57Thr). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CD3G-related disease. This variant is not present in population databases (ExAC no frequency).

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