ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.337G>T (p.Val113Phe) (rs281865126)

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
GeneDx RCV000657923 SCV000779690 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MPZ gene. The V113F variant has been previously reported in an individual with demyelinating and axonal peripheral neuropathy, pes cavus, and pupillary light-near dissociation (Bienfait et al., 2002). However, this individual was also found to carry another variant (H81Y) on the same allele and parental studies were not performed. The V113F variant is not observed in large population cohorts (Lek et al., 2016). The V113F variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Missense variants in nearby residues have been reported in the Human Gene Mutation Database in individuals with MPZ-related disorders (Stenson et al., 2014). However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
GeneReviews RCV000033917 SCV000057833 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-03-26 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789425 SCV000928780 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.