ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.853T>G (p.Leu285Val) (rs554623238)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547166 SCV000653552 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate F 2017-04-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 285 of the GNB4 protein (p.Leu285Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs554623238, ExAC 0.06%) but 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: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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