ClinVar Miner

Submissions for variant NM_181882.2(PRX):c.892C>T (p.Pro298Ser) (rs185112635)

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 RCV000486812 SCV000565432 uncertain significance not specified 2016-10-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PRX gene. The P298S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The NHLBI Exome Sequencing Project and the 1000 Genomes Project report P298S was observed in 0.5-2.5% of alleles from various African subpopulations, indicating it may be a rare (benign) variant in this population. The P298S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000543868 SCV000658040 benign Charcot-Marie-Tooth disease type 4 2017-12-19 criteria provided, single submitter clinical testing

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.