ClinVar Miner

Submissions for variant NM_007289.4(MME):c.202C>T (p.Arg68Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056048 SCV001220467 pathogenic not provided 2019-05-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg68*) in the MME gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs201692212, ExAC 0.003%). This variant has been observed in individuals affected with Charcot-Marie-Tooth disease type 2 (PMID: 27588448). Loss-of-function variants in MME are known to be pathogenic (PMID: 26991897). For these reasons, this variant has been classified as Pathogenic.
Undiagnosed Diseases Network,NIH RCV001255622 SCV001432153 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2T 2020-04-08 criteria provided, single submitter clinical testing

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