Dilated cardiomyopathy 1DD: genes and variants
Dilated cardiomyopathy 1DD is linked to 1 analyzed protein (RBM20). 4 DNA variants are known to cause it; 765 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 Dilated cardiomyopathy 1DD
RBM20: RNA-binding protein 20
It directs cardiac alternative splicing of TTN and numerous calcium-handling and sarcomeric transcripts. Pathogenic variants can produce a highly arrhythmogenic form of dilated cardiomyopathy through widespread disruption of cardiac RNA processing.
4 disease-causing and 765 uncertain variants in RBM20 are linked to Dilated cardiomyopathy 1DD.
Weakly linked (only a few uncertain records): TNNT2.
Known disease-causing variants in Dilated cardiomyopathy 1DD
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RBM20 R634Q | 634 | RS | Disease-causing (★★) |
| RBM20 R634W | 634 | RS | Disease-causing (★★) |
| RBM20 R636L | 636 | RS | Disease-causing (★★) |
| RBM20 E913V | 913 | Disease-causing (★) |
Diseases related to Dilated cardiomyopathy 1DD
- Dilated cardiomyopathy, also linked to RBM20
- Primary dilated cardiomyopathy, also linked to RBM20
- Primary familial dilated cardiomyopathy, also linked to RBM20
- Familial isolated dilated cardiomyopathy, also linked to RBM20
Frequently asked questions
Which genes are linked to Dilated cardiomyopathy 1DD?
In CATVariant, Dilated cardiomyopathy 1DD is linked to 1 analyzed protein: RBM20 (RNA-binding protein 20).
How many genetic variants are linked to Dilated cardiomyopathy 1DD?
864 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 765 are of uncertain significance or have conflicting reports.
Which uncertain variants in Dilated cardiomyopathy 1DD 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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