ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.182A>G (p.Glu61Gly)

gnomAD frequency: 0.00001  dbSNP: rs779928693
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 RCV001173757 SCV001336871 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002411668 SCV002716277 uncertain significance Inborn genetic diseases 2019-10-28 criteria provided, single submitter clinical testing The p.E61G variant (also known as c.182A>G), located in coding exon 2 of the PRX gene, results from an A to G substitution at nucleotide position 182. The glutamic acid at codon 61 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.