Total submissions: 4
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, |
RCV001255622 | SCV001432153 | likely pathogenic | Charcot-Marie-Tooth disease axonal type 2T | 2020-04-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001056048 | SCV001501886 | pathogenic | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
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) |