PCM1
Chr 8pericentriolar material 1
Also known as: PTC4, RET/PCM-1
PCM1 encodes a component of centriolar satellites that is essential for centrosome assembly, localization of centrosomal proteins, anchoring microtubules to the centrosome, and cilium biogenesis. Mutations cause autosomal recessive primary microcephaly with intellectual disability and growth retardation, typically presenting in infancy with severe developmental delays. This gene is highly constrained against loss-of-function variants, reflecting its critical role in cellular organization and brain development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
ClinVar Variant Classifications
400 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 | 13 | 0 | 13 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 291 | 3 | 0 | 295 |
Likely Benign | 0 | 18 | 3 | 4 | 25 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 309 | 19 | 4 | 333 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PCM1 · 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