ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs201692212
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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 2024-09-12 criteria provided, single submitter clinical testing Seen heterozygous in patients with Charcot-Marie-Tooth type 2 (CMT2) disease in published literature (PMID: 27588448, 33144514); Observed with a second MME variant in patients with features of MME-related neuropathy referred for genetic testing at GeneDx and in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (PMID: 38481354); 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: 34480178, 33144514, 27588448, 38548322, 38481354)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.