SIMC1
Chr 5SUMO interacting motifs containing 1
Also known as: C5orf25, OOMA1, PLEIAD
SIMC1 encodes a protein that enables SUMO polymer binding and peptidase inhibitor activity, and forms complexes required to recruit the SMC5-SMC6 complex to PML nuclear bodies for viral restriction. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and progressive brain atrophy. The gene shows high constraint against loss-of-function variants, indicating intolerance to protein-truncating mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
142 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 | 45 | 0 | 45 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 74 | 6 | 0 | 80 |
Likely Benign | 0 | 2 | 3 | 1 | 6 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 76 | 54 | 2 | 132 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SIMC1 · 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