Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001173694 | SCV001336804 | pathogenic | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics Inc | RCV001664729 | SCV001880051 | likely pathogenic | not provided | 2021-06-07 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). |
Invitae | RCV002558758 | SCV003306526 | pathogenic | Charcot-Marie-Tooth disease, type I | 2022-12-17 | 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: 917144). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 32376792). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg67Leufs*23) in the MPZ gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). |