ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.550C>T (p.Arg184Cys)

gnomAD frequency: 0.00001  dbSNP: rs760118221
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056413 SCV001220856 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 184 of the PLEKHG5 protein (p.Arg184Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs760118221, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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