ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2968C>T (p.Arg990Ter)

gnomAD frequency: 0.00001  dbSNP: rs772171318
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218549 SCV001390436 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2021-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg990*) in the PLEKHG5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 17 amino acid(s) of the PLEKHG5 protein. This variant is present in population databases (rs772171318, gnomAD 0.002%). 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: 947464). 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.

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