ClinVar Miner

Submissions for variant NM_002075.4(GNB3):c.343G>T (p.Gly115Trp)

dbSNP: rs201963490
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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 RCV003036196 SCV003352053 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 115 of the GNB3 protein (p.Gly115Trp). 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. This variant has not been reported in the literature in individuals affected with GNB3-related conditions. This variant is present in population databases (rs201963490, gnomAD 0.003%).

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