ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)

gnomAD frequency: 0.00002  dbSNP: rs559968504
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
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172757 SCV001335824 likely pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001241428 SCV001414442 uncertain significance Charcot-Marie-Tooth disease type 4 2022-04-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1335*) in the PRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 127 amino acid(s) of the PRX protein. This variant is present in population databases (rs559968504, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 916819). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.