ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.242A>G (p.His81Arg) (rs121913594)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518134 SCV000614104 pathogenic not provided 2015-05-28 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality. Assessment of experimental evidence suggests this variant results in abnormal protein function. Segregates with disease in multiple families
Invitae RCV001385507 SCV001585385 pathogenic Charcot-Marie-Tooth disease, type I 2020-02-15 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 81 of the MPZ protein (p.His81Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. 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: 8990016). It has also been observed to segregate with disease in related individuals. This variant is also known as H52R in the literature. ClinVar contains an entry for this variant (Variation ID: 14179). This variant has been reported to affect MPZ protein function (PMID: 18337304). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015242 SCV000035501 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 1997-01-01 no assertion criteria provided literature only
GeneReviews RCV000015242 SCV000055675 pathologic Charcot-Marie-Tooth disease, demyelinating, type 1b 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000789479 SCV000928835 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.