Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hadassah Hebrew University Medical Center | RCV000991442 | SCV001142839 | likely pathogenic | Charcot-Marie-Tooth disease type 4B1 | 2019-06-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001858734 | SCV002184831 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2023-01-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 804461). This variant has not been reported in the literature in individuals affected with MTMR2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys256Glufs*20) in the MTMR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTMR2 are known to be pathogenic (PMID: 10802647). |
Section for Clinical Neurogenetics, |
RCV000991442 | SCV001156093 | likely pathogenic | Charcot-Marie-Tooth disease type 4B1 | 2019-08-01 | no assertion criteria provided | research |