ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.508_511del (p.Leu170fs)

dbSNP: rs2526236083
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003740795 SCV004557702 pathogenic Charcot-Marie-Tooth disease, type I 2023-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MPZ protein in which other variant(s) (p.Lys236del) have been determined to be pathogenic (PMID: 12207932, 15716547, 29687021, 31173589). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with MPZ-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the MPZ gene (p.Leu170Cysfs*81). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 79 amino acid(s) of the MPZ protein and extend the protein by 1 additional amino acid residues.

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.