ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) (rs1571818632)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,London Health Sciences Centre 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.