ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.1457_1482del (p.Gln486fs)

gnomAD frequency: 0.00001  dbSNP: rs1266507622
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001957293 SCV002207418 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln486Profs*160) 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. ClinVar contains an entry for this variant (Variation ID: 1424950). For these reasons, this variant has been classified as Pathogenic.

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