SSU72
Chr 1SSU72 homolog, RNA polymerase II CTD phosphatase
Also known as: HSPC182, PNAS-120
SSU72 encodes a protein phosphatase that dephosphorylates the C-terminal domain of RNA polymerase II and plays a role in mRNA processing and polyadenylation. Mutations cause autosomal recessive neurodevelopmental disorder with early-onset seizures, developmental delay, and intellectual disability. The gene shows evidence of constraint against loss-of-function variants (LOEUF 0.51), suggesting intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
171 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 125 |
Likely Pathogenic | — | — | — | — | 7 |
VUS | — | — | — | — | 31 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
| Total | — | 164 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SSU72 · 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