MYOM1
Chr 18myomesin 1
Also known as: SKELEMIN
Myomesin 1 is a major component of the sarcomere M band that binds myosin, titin, and light meromyosin to maintain muscle fiber structure. Mutations cause autosomal recessive myopathy with rigidity of extraocular muscles and nocardiosis susceptibility, as well as hypertrophic cardiomyopathy. This gene is not highly constrained against loss-of-function variants and primarily affects skeletal and cardiac muscle systems.
Disputed — evidence questions this relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
600 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 | 3 | 0 | 3 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 15 | 326 | 33 | 4 | 378 |
Likely Benign | 0 | 4 | 80 | 113 | 197 |
Benign | 0 | 0 | 2 | 0 | 2 |
| Total | 15 | 330 | 119 | 117 | 581 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MYOM1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools