ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2234C>G (p.Pro745Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002725350 SCV002995341 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2022-04-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 745 of the PLEKHG5 protein (p.Pro745Arg). This variant is present in population databases (rs536038159, gnomAD 0.003%). 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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