Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV000790094 | SCV001336807 | likely pathogenic | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001233191 | SCV001405774 | pathogenic | Charcot-Marie-Tooth disease, type I | 2019-11-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr145*) in the MPZ gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 18663734). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 637781). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). For these reasons, this variant has been classified as Pathogenic. |
Inherited Neuropathy Consortium | RCV000790094 | SCV000929484 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |