SCRT1
Chr 8scratch family transcriptional repressor 1
Also known as: SCRT, ZNF898
This gene encodes a C2H2-type zinc finger transcriptional repressor that binds to E-box motifs and modulates basic helix-loop-helix transcription factors critical for neuronal differentiation. Mutations cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, which follows an autosomal dominant inheritance pattern. The gene shows tolerance to loss-of-function variants, suggesting the disorder may involve complex mutational mechanisms.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
112 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 | 52 | 0 | 52 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 38 | 13 | 0 | 51 |
Likely Benign | 0 | 0 | 1 | 1 | 2 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 38 | 72 | 1 | 111 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SCRT1 · 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