PRIMPOL
Chr 4ADprimase and DNA directed polymerase
Also known as: CCDC111, MYP22, Primpol1
The protein is a DNA primase-polymerase that facilitates DNA replication fork progression by bypassing DNA damage lesions and reinitiating DNA synthesis in both nuclear and mitochondrial DNA. Mutations cause autosomal dominant myopia 22. The gene is not highly constrained against loss-of-function variants (LOEUF 1.328).
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
223 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 | 96 | 0 | 96 |
Likely Pathogenic | 0 | 0 | 9 | 0 | 9 |
VUS | 2 | 85 | 15 | 0 | 102 |
Likely Benign | 0 | 6 | 2 | 3 | 11 |
Benign | 0 | 3 | 1 | 1 | 5 |
| Total | 2 | 94 | 123 | 4 | 223 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PRIMPOL · 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