TRAPPC8
Chr 18trafficking protein particle complex subunit 8
Also known as: GSG1, HsT2706, KIAA1012, TRS85
The TRAPPC8 protein functions in endoplasmic reticulum to Golgi trafficking, maintains the ATG9 cycling pool required for autophagy initiation, and is involved in collagen secretion. Mutations cause autosomal recessive intellectual developmental disorder with seizures and spasticity, typically presenting in infancy with developmental delays, epilepsy, and progressive spasticity. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
279 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 | 0 | 0 | 36 | 0 | 36 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 178 | 11 | 0 | 189 |
Likely Benign | 0 | 4 | 2 | 2 | 8 |
Benign | 0 | 1 | 2 | 0 | 3 |
| Total | 0 | 183 | 52 | 2 | 237 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TRAPPC8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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