ClinVar Miner

Submissions for variant NM_007325.5(GRIA3):c.580G>A (p.Gly194Arg)

gnomAD frequency: 0.00009  dbSNP: rs189437004
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209883 SCV000265564 likely benign Syndromic X-linked intellectual disability 94 2015-03-09 criteria provided, single submitter research
GeneDx RCV001582717 SCV001821191 likely benign not provided 2020-10-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29652076)
Invitae RCV001582717 SCV003022468 uncertain significance not provided 2024-01-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 194 of the GRIA3 protein (p.Gly194Arg). This variant is present in population databases (rs189437004, gnomAD 0.01%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with GRIA3-related conditions. ClinVar contains an entry for this variant (Variation ID: 224120). 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 GRIA3 protein function with a negative predictive value of 80%. 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.