ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.271G>A (p.Glu91Lys)

gnomAD frequency: 0.00001  dbSNP: rs1383238492
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704394 SCV000833342 likely benign Charcot-Marie-Tooth disease, type I 2023-10-17 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173703 SCV001336817 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001772002 SCV001993702 uncertain significance not provided 2019-05-13 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32376792)

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