ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.1391C>T (p.Thr464Met)

gnomAD frequency: 0.00001  dbSNP: rs777612808
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002020592 SCV002298955 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2020-12-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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"). This variant has not been reported in the literature in individuals with PLEKHG5-related conditions. This variant is present in population databases (rs777612808, ExAC 0.05%). This sequence change replaces threonine with methionine at codon 464 of the PLEKHG5 protein (p.Thr464Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine.

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