SPOUT1
Chr 9ARSPOUT domain containing methyltransferase 1
Also known as: C9orf114, CENP-32, CENP32, HSPC109, NEDGSB
SPOUT1 encodes an S-adenosyl-L-methionine-dependent RNA methyltransferase that methylates 28S rRNA, maintains centrosome positioning during mitosis, and regulates miRNA processing including MIR145. Mutations cause neurodevelopmental disorders with intellectual disability, seizures, and brain malformations, inherited in an autosomal recessive pattern. The gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
127 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 | 32 | 0 | 32 |
Likely Pathogenic | 0 | 6 | 1 | 0 | 7 |
VUS | 2 | 32 | 9 | 1 | 44 |
Likely Benign | 1 | 1 | 3 | 4 | 9 |
Benign | 0 | 5 | 1 | 4 | 10 |
Conflicting | — | 2 | |||
| Total | 3 | 44 | 46 | 9 | 104 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SPOUT1 · 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