Laing early-onset distal myopathy: genes and variants
Explore variant evidence for Laing early-onset distal myopathy across 1 analyzed protein (MYH7). Linked ClinVar records include 7 pathogenic or likely pathogenic variants, 28 variants of uncertain significance and 11 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-21. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Laing early-onset distal 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 ClinVar pathogenic / likely pathogenic and 39 uncertain variants in MYH7 have source records linked to Laing early-onset distal myopathy. Association strength is not clinical gene validity.
Where Laing early-onset distal myopathy variants cluster
- MYH7 Coiled coil (positions 839–1935): 6 of 7 ClinVar pathogenic / likely pathogenic variants, 1.5× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Laing early-onset distal myopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MYH7 R1500W | 1500 | Coiled coil | Pathogenic / likely pathogenic (★★) |
| MYH7 M515T | 515 | Myosin motor | Pathogenic / likely pathogenic (★★) |
| MYH7 A1437P | 1437 | Coiled coil | Pathogenic / likely pathogenic (★★) |
| MYH7 L1481P | 1481 | Coiled coil | Pathogenic / likely pathogenic |
| MYH7 T1599P | 1599 | Coiled coil | Pathogenic / likely pathogenic |
| MYH7 R1608P | 1608 | Coiled coil | Pathogenic / likely pathogenic |
| MYH7 A1636P | 1636 | Coiled coil | Pathogenic / likely pathogenic |
Same protein, different disease
- Hypertrophic cardiomyopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Laing early-onset distal myopathy variants (239 pathogenic / likely pathogenic).
- Dilated cardiomyopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Laing early-onset distal myopathy variants (21 pathogenic / likely pathogenic).
- Primary dilated cardiomyopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Laing early-onset distal myopathy variants (15 pathogenic / likely pathogenic).
- Hyaline body myopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Laing early-onset distal myopathy variants (13 pathogenic / likely pathogenic).
- Familial cardiomyopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Laing early-onset distal myopathy variants (7 pathogenic / likely pathogenic).
Diseases related to Laing early-onset distal myopathy
- Hypertrophic cardiomyopathy, also linked to MYH7
- Dilated cardiomyopathy, also linked to MYH7
- Primary dilated cardiomyopathy, also linked to MYH7
- Familial restrictive cardiomyopathy, also linked to MYH7
- Arrhythmogenic right ventricular dysplasia, also linked to MYH7
- Primary familial hypertrophic cardiomyopathy, also linked to MYH7
- Hyaline body 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
- Fiber-type disproportion myopathy, also linked to MYH7
- Myopathy, myosin storage, autosomal recessive, also linked to MYH7
Frequently asked questions
Which genes have records linked to Laing early-onset distal myopathy?
This view contains 1 analyzed proteins: MYH7. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 7 pathogenic or likely pathogenic variants, 28 variants of uncertain significance and 11 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 46 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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