MYL3
Chr 3ADARmyosin light chain 3
Also known as: CMH8, MLC-lV/sb, MLC1SB, MLC1V, VLC1, VLCl
MYL3 encodes myosin light chain 3, a regulatory light chain of myosin that does not bind calcium and is expressed in ventricular and slow skeletal muscle. Mutations cause hypertrophic cardiomyopathy type 8, specifically affecting the mid-left ventricular chamber. The condition follows both autosomal dominant and autosomal recessive inheritance patterns.
Limited evidence — not for standalone diagnostic reporting
3 total gene-disease associations curated
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
418 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 | 4 | 0 | 4 |
Likely Pathogenic | 1 | 3 | 0 | 0 | 4 |
VUS | 29 | 202 | 28 | 4 | 263 |
Likely Benign | 0 | 0 | 55 | 70 | 125 |
Benign | 0 | 0 | 7 | 1 | 8 |
Conflicting | — | 11 | |||
| Total | 30 | 205 | 94 | 75 | 415 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MYL3 · 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