Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513141 | SCV000608501 | likely pathogenic | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001060274 | SCV001224951 | pathogenic | Charcot-Marie-Tooth disease, type I | 2019-03-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). This variant has not been reported in the literature in individuals with MPZ-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu91Leufs*14) in the MPZ gene. It is expected to result in an absent or disrupted protein product. |