SCRG1
Chr 4stimulator of chondrogenesis 1
Also known as: SCRG-1, lincSCRG1
The scrapie-responsive protein 1 is associated with neurodegenerative changes in transmissible spongiform encephalopathies and may function in host response to prion infections, while also interacting with bone marrow stromal cell antigen 1 to enhance mesenchymal stem cell differentiation. Mutations in SCRG1 cause autosomal recessive spinocerebellar ataxia with epilepsy, characterized by early-onset progressive ataxia and seizures. The gene shows tolerance to loss-of-function variants (pLI 0.04, LOEUF 1.72), consistent with a recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
86 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 | 59 | 0 | 59 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 15 | 5 | 0 | 20 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 16 | 67 | 0 | 83 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SCRG1 · 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