ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter)

gnomAD frequency: 0.00006  dbSNP: rs770593694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685826 SCV000813325 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg848*) in the PLEKHG5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PLEKHG5 are known to be pathogenic (PMID: 17564964, 23777631). This variant is present in population databases (rs770593694, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. ClinVar contains an entry for this variant (Variation ID: 566096). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001786409 SCV002028550 likely pathogenic not provided 2021-05-26 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Database of Genomic Variants; McDonald et al., 2014); Has not been previously published as pathogenic or benign to our knowledge

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