ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*2156G>A (rs3814290)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700877 SCV000829653 uncertain significance Charcot-Marie-Tooth disease type 4 2018-04-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 651 of the PRX protein (p.Asp651Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs3814290, ExAC 0.06%). This variant has been reported as homozygous in an individual affected with Charcot-Marie-Tooth disease(PMID: 22847150). ClinVar contains an entry for this variant (Variation ID: 38452). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
GeneReviews RCV000032002 SCV000054711 pathologic Charcot-Marie-Tooth disease, demyelinating, type 4F 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000032002 SCV000056675 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 4F 2012-11-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059812 SCV000091382 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000789073 SCV000928422 uncertain significance 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.