ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)

dbSNP: rs281865136
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514144 SCV003441431 pathogenic Charcot-Marie-Tooth disease, type I 2022-06-10 criteria provided, single submitter clinical testing This variant disrupts the p.Arg359 amino acid residue in EGR2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10369870, 10371530, 11523566, 15947997, 17717711, 27159987). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 359 of the EGR2 protein (p.Arg359Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hereditary motor and sensory neuropathy (PMID: 16198564). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 41007). 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"). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000033900 SCV000057814 not provided Charcot-Marie-Tooth disease type 1D no assertion provided literature only
Inherited Neuropathy Consortium RCV000789743 SCV000929121 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000033900 SCV004174367 uncertain significance Charcot-Marie-Tooth disease type 1D 2016-01-06 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.