Myosin storage myopathy: genes and variants

Genes linked to Myosin storage 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.

  13 disease-causing and 102 uncertain variants in MYH7 are linked to Myosin storage myopathy.

Known disease-causing variants in Myosin storage myopathy

Which prediction tools work for Myosin storage myopathy

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• CATVariant: 82 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• SIFT: 76 out of 100
• PolyPhen-2: 74 out of 100 (learned from overlapping clinical labels, so this is optimistic)

Same protein, different disease

• Hypertrophic cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the Myosin storage myopathy variants (239 disease-causing).
• Dilated cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the Myosin storage myopathy variants (21 disease-causing).
• Primary dilated cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the Myosin storage myopathy variants (15 disease-causing).
• MYH7-related skeletal myopathy is also caused by MYH7 variants; they fall mostly in different places as the Myosin storage myopathy variants (7 disease-causing).
• Familial cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the Myosin storage myopathy variants (7 disease-causing).

Diseases related to Myosin storage 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
• 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
• MYH7-related skeletal myopathy, 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 Myosin storage myopathy?

In CATVariant, Myosin storage myopathy is linked to 1 analyzed protein: MYH7 (Myosin-7).

How many genetic variants are linked to Myosin storage myopathy?

115 variants: 13 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 102 are of uncertain significance or have conflicting reports.

Which uncertain variants in Myosin storage myopathy look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

Which variant effect predictor works best for Myosin storage myopathy?

Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.76, based on 12 disease-causing and 19 harmless variants).

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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