ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.138del (p.Ser47fs) (rs864622180)

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
Invitae RCV000206056 SCV000259594 pathogenic Charcot-Marie-Tooth disease, type I 2018-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser47Glnfs*23) in the PMP22 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Charcot-Marie-Tooth disease (PMID: 25614874). ClinVar contains an entry for this variant (Variation ID: 219616). Loss-of-function variants in PMP22 are known to be pathogenic (PMID: 23224996). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV000712770 SCV000843295 likely pathogenic not provided 2018-04-06 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790152 SCV000929543 pathogenic 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.