DSCC1
Chr 8DNA replication and sister chromatid cohesion 1
Also known as: DCC1
The DSCC1 protein is a component of an alternative replication factor C complex that loads PCNA onto DNA during S phase and regulates DNA replication fork activity and sister chromatid cohesion. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.67), but specific disease associations and inheritance patterns have not been established in the provided data. Additional clinical and genetic studies are needed to define the phenotypic spectrum associated with DSCC1 variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
119 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 | 0 | 0 | 0 |
VUS | 0 | 42 | 5 | 0 | 47 |
Likely Benign | 0 | 0 | 0 | 1 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 42 | 57 | 1 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DSCC1 · 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