ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.426_431del (p.Thr143_Leu144del)

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 RCV002872470 SCV003239119 uncertain significance Charcot-Marie-Tooth disease, type I 2022-10-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant, c.426_431del, results in the deletion of 2 amino acid(s) of the MPZ protein (p.Thr143_Leu144del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MPZ-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the MPZ protein in which other variant(s) (p.Thr143Met) have been observed in individuals with MPZ-related conditions (PMID: 20456450). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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.