MORN1
Chr 1ARADMORN repeat containing 1
MORN1 encodes a membrane occupation and recognition nexus protein that localizes to mitochondria and is involved in mitochondrial dynamics and morphology. Mutations cause both dilated cardiomyopathy (type 2E) and hypertrophic cardiomyopathy (type 17) with autosomal recessive and autosomal dominant inheritance patterns. The gene shows extremely low constraint against loss-of-function variants, indicating tolerance to such mutations in the general population.
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
The highest-scoring mechanism for this gene is gain-of-function.
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
282 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 | 124 | 0 | 124 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 106 | 19 | 0 | 125 |
Likely Benign | 0 | 10 | 0 | 2 | 12 |
Benign | 0 | 0 | 0 | 2 | 2 |
| Total | 0 | 116 | 146 | 4 | 266 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MORN1 · 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