ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.770G>A (p.Arg257Gln)

dbSNP: rs780441708
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001977873 SCV002261889 uncertain significance Charcot-Marie-Tooth disease, type I 2021-01-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). This sequence change replaces arginine with glutamine at codon 257 of the EGR2 protein (p.Arg257Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs780441708, ExAC 0.002%). This variant has not been reported in the literature in individuals with EGR2-related conditions. 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.
Fulgent Genetics, Fulgent Genetics RCV005042634 SCV005682529 uncertain significance Charcot-Marie-Tooth disease type 1D; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E 2024-05-15 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.