ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.509C>T (p.Pro170Leu)

gnomAD frequency: 0.00137  dbSNP: rs59117380
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555958 SCV000646055 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001568993 SCV001792960 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003962537 SCV004784184 likely benign PLEKHG5-related disorder 2020-08-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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