ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) (rs775019409)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213954 SCV000279563 pathogenic not provided 2016-10-18 criteria provided, single submitter clinical testing The S149R pathogenic variant in the PMP22 gene has been reported previously as a de novo pathogenic variant in an individual with a clinical diagnosis of Dejerine-Sottas disease (Ohnishi et al., 2000). The S149R variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S149R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a conserved position predicted to be within the fourth transmembrane domain of the PMP22 protein (Ohnishi et al., 2000). Missense variants in nearby residues (L147R, G150C/D/R) have been reported in the Human Gene Mutation Database in association with PMP22-related disorders (Stenson et al., 2014). In silico analysis predicts this variant is probably damaging to the protein structure/function.
Inherited Neuropathy Consortium RCV000790160 SCV000929551 uncertain significance Dejerine-Sottas 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.