Scapuloperoneal amyotrophy: genes and variants
Explore variant evidence for Scapuloperoneal amyotrophy across 1 analyzed protein (DES). Linked ClinVar records include 3 pathogenic or likely pathogenic variants, 17 variants of uncertain significance and 6 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 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Scapuloperoneal amyotrophy
DES: Desmin
Its desmin filaments mechanically integrate sarcomeres with the nucleus, mitochondria, and cell junctions in striated muscle. Pathogenic variants cause desmin-related myopathy and can produce cardiomyopathy, conduction disease, and skeletal-muscle weakness.
3 ClinVar pathogenic / likely pathogenic and 23 uncertain variants in DES have source records linked to Scapuloperoneal amyotrophy. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Scapuloperoneal amyotrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DES L377P | 377 | IF rod | Pathogenic / likely pathogenic (★★) |
| DES H384R | 384 | IF rod | Pathogenic / likely pathogenic (★★) |
| DES L370P | 370 | IF rod | Pathogenic / likely pathogenic (★★) |
Same protein, different disease
- Desminopathy also has ClinVar records linked to DES variants; they fall mostly in different places as the Scapuloperoneal amyotrophy variants (37 pathogenic / likely pathogenic).
- Primary dilated cardiomyopathy also has ClinVar records linked to DES variants; they fall mostly in different places as the Scapuloperoneal amyotrophy variants (3 pathogenic / likely pathogenic).
Diseases related to Scapuloperoneal amyotrophy
- Dilated cardiomyopathy, also linked to DES
- Arrhythmogenic right ventricular dysplasia, also linked to DES
- Desminopathy, also linked to DES
- Cardiomyopathy, also linked to DES
- Primary dilated cardiomyopathy, also linked to DES
- Primary familial dilated cardiomyopathy, also linked to DES
- Familial isolated dilated cardiomyopathy, also linked to DES
- Limb-girdle muscular dystrophy, also linked to DES
Frequently asked questions
Which genes have records linked to Scapuloperoneal amyotrophy?
This view contains 1 analyzed proteins: DES. 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 3 pathogenic or likely pathogenic variants, 17 variants of uncertain significance and 6 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 30 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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