ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2801G>C (p.Ser934Thr)

gnomAD frequency: 0.00001  dbSNP: rs1404826523
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001297407 SCV001486419 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2020-02-18 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. 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. This variant has not been reported in the literature in individuals with PLEKHG5-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces serine with threonine at codon 934 of the PLEKHG5 protein (p.Ser934Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine.

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