ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2263G>A (p.Glu755Lys)

gnomAD frequency: 0.00001  dbSNP: rs758150130
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002048727 SCV002313995 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-08-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1522668). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 755 of the ADAR protein (p.Glu755Lys). This variant is present in population databases (rs758150130, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ADAR protein function. 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.

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.