ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.224A>T (p.Asp75Val)

dbSNP: rs121913597
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001070451 SCV001235682 pathogenic Charcot-Marie-Tooth disease, type I 2019-12-04 criteria provided, single submitter clinical testing This variant has been reported to affect MPZ protein function (PMID: 20461396). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 11080237, 12402337). ClinVar contains an entry for this variant (Variation ID: 14184). This sequence change replaces aspartic acid with valine at codon 75 of the MPZ protein (p.Asp75Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency).
OMIM RCV000015248 SCV000035507 pathogenic Charcot-Marie-Tooth disease type 2J 2000-12-01 no assertion criteria provided literature only
GeneReviews RCV000190346 SCV000055674 not provided Charcot-Marie-Tooth disease type 1B no assertion 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.