ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*1596G>A (rs553211374)

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
Invitae RCV000459879 SCV000551420 uncertain significance Charcot-Marie-Tooth disease type 4 2019-09-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 464 of the PRX protein (p.Arg464Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs553211374, ExAC 0.009%) but has not been reported in the literature in individuals with a PRX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286253 SCV001472791 uncertain significance none provided 2019-12-19 criteria provided, single submitter clinical testing The PRX c.1391G>A, p.Arg464Gln variant (rs553211374), to our knowledge, is not reported in the medical literature but is reported as uncertain in ClinVar (Variation ID: 410600). This variant is found in the Latino population with an allele frequency of 0.02% (8/35,438 alleles) in the Genome Aggregation Database. The arginine at codon 464 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of the p.Arg464Gln variant is uncertain at this time.

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.