GRM7
Chr 3ARglutamate metabotropic receptor 7
Also known as: GLUR7, GPRC1G, MGLU7, MGLUR7, NEDSHBA, PPP1R87
This protein is a Group III metabotropic glutamate receptor that inhibits adenylate cyclase and regulates axon outgrowth through MAPK-cAMP-PKA signaling during neuronal development. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities. The gene is highly constrained against loss-of-function variation (pLI = 1.0, LOEUF = 0.24), indicating that haploinsufficiency is likely not tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
300 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 0 | 22 | 0 | 24 |
Likely Pathogenic | 0 | 1 | 1 | 0 | 2 |
VUS | 1 | 143 | 9 | 0 | 153 |
Likely Benign | 0 | 4 | 18 | 82 | 104 |
Benign | 0 | 1 | 2 | 3 | 6 |
Conflicting | — | 2 | |||
| Total | 3 | 149 | 52 | 85 | 291 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GRM7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools