MYH7-related skeletal myopathy: genes and variants
MYH7-related skeletal myopathy is linked to 1 analyzed protein (MYH7). 7 DNA variants are known to cause it; 39 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to MYH7-related skeletal myopathy
MYH7: Myosin-7
Its beta-myosin motor converts ATP hydrolysis into force within cardiac and slow-skeletal-muscle sarcomeres. Pathogenic variants are major causes of hypertrophic and dilated cardiomyopathy and can also produce inherited skeletal myopathies.
7 disease-causing and 39 uncertain variants in MYH7 are linked to MYH7-related skeletal myopathy.
Where MYH7-related skeletal myopathy variants cluster
- MYH7 Coiled coil (positions 839–1935): 6 of 7 disease-causing changes, 1.5× more than its size predicts.
Known disease-causing variants in MYH7-related skeletal myopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MYH7 R1500W | 1500 | Coiled coil | Disease-causing (★★) |
| MYH7 M515T | 515 | Myosin motor | Disease-causing (★★) |
| MYH7 A1437P | 1437 | Coiled coil | Disease-causing (★★) |
| MYH7 L1481P | 1481 | Coiled coil | Disease-causing |
| MYH7 T1599P | 1599 | Coiled coil | Disease-causing |
| MYH7 R1608P | 1608 | Coiled coil | Disease-causing |
| MYH7 A1636P | 1636 | Coiled coil | Disease-causing |
Same protein, different disease
- Hypertrophic cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the MYH7-related skeletal myopathy variants (239 disease-causing).
- Dilated cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the MYH7-related skeletal myopathy variants (21 disease-causing).
- Primary dilated cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the MYH7-related skeletal myopathy variants (15 disease-causing).
- Myosin storage myopathy is also caused by MYH7 variants; they fall mostly in different places as the MYH7-related skeletal myopathy variants (13 disease-causing).
- Familial cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the MYH7-related skeletal myopathy variants (7 disease-causing).
Diseases related to MYH7-related skeletal myopathy
- Hypertrophic cardiomyopathy, also linked to MYH7
- Dilated cardiomyopathy, also linked to MYH7
- Primary dilated cardiomyopathy, also linked to MYH7
- Primary familial hypertrophic cardiomyopathy, also linked to MYH7
- Myosin storage myopathy, also linked to MYH7
- Left ventricular noncompaction, also linked to MYH7
- Primary familial dilated cardiomyopathy, also linked to MYH7
- Familial cardiomyopathy, also linked to MYH7
- Restrictive cardiomyopathy, also linked to MYH7
- Myopathy, myosin storage, autosomal recessive, also linked to MYH7
- Congenital myopathy with fiber type disproportion, also linked to MYH7
- Myopathy, also linked to MYH7
Frequently asked questions
Which genes are linked to MYH7-related skeletal myopathy?
In CATVariant, MYH7-related skeletal myopathy is linked to 1 analyzed protein: MYH7 (Myosin-7).
How many genetic variants are linked to MYH7-related skeletal myopathy?
46 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 39 are of uncertain significance or have conflicting reports.
Which uncertain variants in MYH7-related skeletal myopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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