Rippling muscle disease: genes and variants
Explore variant evidence for Rippling muscle disease across 1 analyzed protein (CAV3). Linked ClinVar records include 4 pathogenic or likely pathogenic variants, 8 variants of uncertain significance and 0 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 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Rippling muscle disease
CAV3: Caveolin-3
Caveolin-3 forms caveolae in muscle-cell membranes and supports membrane signaling and repair. Variants cause a range of muscle disorders, including rippling muscle disease.
4 ClinVar pathogenic / likely pathogenic and 8 uncertain variants in CAV3 have source records linked to Rippling muscle disease. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Rippling muscle disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CAV3 R27Q | 27 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| CAV3 D43G | 43 | Cytoplasmic | Pathogenic / likely pathogenic (★) |
| CAV3 I100N | 100 | Helical | Pathogenic / likely pathogenic (★) |
| CAV3 D28E | 28 | Cytoplasmic | Pathogenic / likely pathogenic |
Same protein, different disease
- Long QT syndrome also has ClinVar records linked to CAV3 variants; they fall mostly in different places as the Rippling muscle disease variants (9 pathogenic / likely pathogenic).
Diseases related to Rippling muscle disease
- Long QT syndrome, also linked to CAV3
- Hypertrophic cardiomyopathy, also linked to CAV3
- Cardiomyopathy, also linked to CAV3
- Sudden infant death syndrome, also linked to CAV3
Frequently asked questions
Which genes have records linked to Rippling muscle disease?
This view contains 1 analyzed proteins: CAV3. 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 4 pathogenic or likely pathogenic variants, 8 variants of uncertain significance and 0 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 27 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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