ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs201692212
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056048 SCV001220467 pathogenic not provided 2024-01-18 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. Loss-of-function variants in MME are known to be pathogenic (PMID: 26991897). This variant is present in population databases (rs201692212, gnomAD 0.05%). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease type 2 (PMID: 27588448). ClinVar contains an entry for this variant (Variation ID: 851617). 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
CeGaT Center for Human Genetics Tuebingen RCV001056048 SCV001501886 pathogenic not provided 2021-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001056048 SCV001780083 likely pathogenic not provided 2018-06-26 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 27588448)

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