ARMC3
Chr 10armadillo repeat containing 3
Also known as: CT81, KU-CT-1, VAC8
ARMC3 encodes a protein essential for male fertility and sperm motility that promotes autophagic degradation of ribosomes during spermatogenesis to provide energy for mitochondria. Mutations cause primary ciliary dyskinesia, an autosomal recessive disorder affecting respiratory cilia and sperm flagella, leading to chronic respiratory infections, bronchiectasis, and male infertility. The gene shows very low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
151 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 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 2 | 118 | 1 | 0 | 121 |
Likely Benign | 0 | 2 | 0 | 3 | 5 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 2 | 120 | 11 | 3 | 136 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ARMC3 · 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