ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2789G>T (p.Arg930Leu)

dbSNP: rs376237905
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803602 SCV000943481 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2018-11-27 criteria provided, single submitter clinical testing 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PLEKHG5-related conditions. This variant is present in population databases (rs376237905, ExAC 0.03%). This sequence change replaces arginine with leucine at codon 930 of the PLEKHG5 protein (p.Arg930Leu). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and leucine. 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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