ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002441375 SCV002746439 pathogenic Inborn genetic diseases 2021-03-31 criteria provided, single submitter clinical testing The p.R930* variant (also known as c.2788C>T), located in coding exon 19 of the PLEKHG5 gene, results from a C to T substitution at nucleotide position 2788. This changes the amino acid from an arginine to a stop codon within coding exon 19. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003775368 SCV004577552 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2023-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg930*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1796001). For these reasons, this variant has been classified as Pathogenic.

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