ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.1327G>T (p.Glu443Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003810207 SCV004609826 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2023-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu443*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992797 SCV004809634 likely pathogenic Charcot-Marie-Tooth disease recessive intermediate C 2024-04-04 criteria provided, single submitter clinical testing

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