ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.848G>C (p.Arg283Pro) (rs186593898)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457235 SCV000547858 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate F 2018-09-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 283 of the GNB4 protein (p.Arg283Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GNB4-related disease. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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