Primary dilated cardiomyopathy: genes and variants
Explore variant evidence for Primary dilated cardiomyopathy across 15 analyzed proteins (MYH7, TNNT2, TPM1, LMNA, DES and 10 more). Linked ClinVar records include 46 pathogenic or likely pathogenic variants, 215 variants of uncertain significance and 53 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. Counts refer to the selected disease label.
Data updated 2026-10-01. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Primary dilated cardiomyopathy
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.
15 ClinVar pathogenic / likely pathogenic and 25 uncertain variants in MYH7 have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
TNNT2: Troponin T, cardiac muscle
It anchors the cardiac troponin complex to tropomyosin and helps translate calcium-dependent conformational changes into controlled actin-myosin interaction. Pathogenic variants can cause hypertrophic, dilated, or restrictive cardiomyopathy and alter arrhythmic risk.
7 ClinVar pathogenic / likely pathogenic and 5 uncertain variants in TNNT2 have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
TPM1: Tropomyosin alpha-1 chain
It lies along actin filaments and helps control access of myosin to actin in response to troponin and calcium, while also stabilizing cytoskeletal actin in nonmuscle cells. Pathogenic variants can cause hypertrophic or dilated cardiomyopathy and several congenital myopathies.
6 ClinVar pathogenic / likely pathogenic and 5 uncertain variants in TPM1 have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
LMNA: Prelamin-A/C
The gene product produces lamins A and C, structural proteins that form the nuclear lamina beneath the inner nuclear membrane. Lamins help maintain nuclear shape and organize chromatin, and LMNA variants are associated with muscular dystrophy, cardiomyopathy, lipodystrophy, and premature-aging syndromes.
5 ClinVar pathogenic / likely pathogenic and 147 uncertain variants in LMNA have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
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 0 uncertain variants in DES have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
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.
2 ClinVar pathogenic / likely pathogenic and 10 uncertain variants in RBM20 have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
ACTC1: Actin, alpha cardiac muscle 1
Its cardiac alpha-actin filaments form the core of the sarcomeric thin filament and provide the track against which myosin generates force. Pathogenic variants can cause hypertrophic or dilated cardiomyopathy and selected congenital heart defects.
1 ClinVar pathogenic / likely pathogenic and 1 uncertain variants in ACTC1 have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
ACTN2: Alpha-actinin-2
It crosslinks actin at the sarcomeric Z-disc and organizes mechanical and signaling complexes in cardiac and skeletal muscle. Pathogenic variants can cause hypertrophic, dilated, or other inherited cardiomyopathies and occasional skeletal-muscle phenotypes.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in ACTN2 have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
TNNI3: Troponin I, cardiac muscle
It restrains cardiac actin-myosin interaction at low calcium and shifts position within the troponin complex when calcium binds, allowing contraction. Pathogenic variants can alter thin-filament calcium sensitivity and cause hypertrophic, restrictive, or dilated cardiomyopathy.
2 ClinVar pathogenic / likely pathogenic and 2 uncertain variants in TNNI3 have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
CSRP3: Cysteine and glycine-rich protein 3
It localizes to the cardiac Z-disc and participates in mechanosensing and maintenance of sarcomere structure under mechanical load. Pathogenic variants can cause hypertrophic or dilated cardiomyopathy by disrupting cardiac structural signaling.
2 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in CSRP3 have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
MYBPC3: Myosin-binding protein C, cardiac-type
A cardiac thick-filament protein positioned in the cross-bridge region of striated muscle. It binds myosin and actin and helps tune contraction, while MYBPC3 variants are a leading genetic cause of hypertrophic cardiomyopathy.
1 ClinVar pathogenic / likely pathogenic and 5 uncertain variants in MYBPC3 have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
SCN5A: Sodium channel protein type 5 subunit alpha
Its rapid inward sodium current drives the upstroke of the cardiac action potential and enables fast electrical conduction through atrial, ventricular, and conduction-system tissue. Pathogenic variants can cause long-QT syndrome type 3, Brugada syndrome, conduction disease, and overlapping arrhythmia phenotypes.
1 ClinVar pathogenic / likely pathogenic and 3 uncertain variants in SCN5A have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
MYPN: Myopalladin
It links sarcomeric and cytoskeletal proteins at the Z-disc and intercalated-disc regions, helping transmit mechanical force and maintain muscle architecture. Pathogenic variants can cause dilated or hypertrophic cardiomyopathy and, in some cases, skeletal myopathy.
0 ClinVar pathogenic / likely pathogenic and 9 uncertain variants in MYPN have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
MYH6: Myosin-6
Its alpha-myosin motor contributes to ATP-dependent force generation in the cardiac sarcomere, particularly in atrial myocardium. Pathogenic variants can cause cardiomyopathy, congenital heart defects, and selected conduction-system disorders.
0 ClinVar pathogenic / likely pathogenic and 6 uncertain variants in MYH6 have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
ANKRD1: Ankyrin repeat domain-containing protein 1
It localizes to the cardiac sarcomere and nucleus, where it participates in mechanosensing and stress-responsive transcription. Rare pathogenic variants have been associated with dilated and hypertrophic cardiomyopathy, although penetrance and variant-specific evidence can vary.
0 ClinVar pathogenic / likely pathogenic and 5 uncertain variants in ANKRD1 have source records linked to Primary dilated cardiomyopathy. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): TBX20, VCL, ABCC9, FLNC, GAA, JPH2, JUP, LAMA2 and 21 more.
Where Primary dilated cardiomyopathy variants cluster
- LMNA Coil 1B (positions 81–218): 3 of 5 ClinVar pathogenic / likely pathogenic variants, 2.9× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Primary dilated cardiomyopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MYH7 S532P | 532 | Myosin motor | Pathogenic / likely pathogenic (★★★) |
| MYH7 R904H | 904 | Coiled coil | Pathogenic / likely pathogenic (★★★) |
| MYH7 R904C | 904 | Coiled coil | Pathogenic / likely pathogenic (★★★) |
| MYH7 R369Q | 369 | Myosin motor | Pathogenic / likely pathogenic (★★★) |
| MYH7 R1193H | 1193 | Coiled coil | Pathogenic / likely pathogenic (★★★) |
| MYH7 E1801K | 1801 | Coiled coil | Pathogenic / likely pathogenic (★★★) |
| MYH7 E1914K | 1914 | Coiled coil | Pathogenic / likely pathogenic (★★★) |
| ACTC1 R185W | 185 | Pathogenic / likely pathogenic (★★) | |
| ACTN2 A119T | 119 | Calponin-homology (CH) 1 | Pathogenic / likely pathogenic (★★) |
| DES S12F | 12 | Head | Pathogenic / likely pathogenic (★★) |
| DES R454W | 454 | Tail | Pathogenic / likely pathogenic (★★) |
| LMNA R541S | 541 | LTD | Pathogenic / likely pathogenic (★★) |
| DES S13F | 13 | Head | Pathogenic / likely pathogenic (★★) |
| LMNA L52V | 52 | IF rod | Pathogenic / likely pathogenic (★★) |
| LMNA T150P | 150 | IF rod | Pathogenic / likely pathogenic (★★) |
| LMNA E203G | 203 | IF rod | Pathogenic / likely pathogenic (★★) |
| MYH7 T215I | 215 | Myosin motor | Pathogenic / likely pathogenic (★★) |
| MYH7 F540L | 540 | Myosin motor | Pathogenic / likely pathogenic (★★) |
| MYH7 R783P | 783 | IQ | Pathogenic / likely pathogenic (★★) |
| RBM20 R636C | 636 | RS | Pathogenic / likely pathogenic (★★) |
| TNNT2 D98E | 98 | Pathogenic / likely pathogenic (★★) | |
| TNNT2 R141W | 141 | Pathogenic / likely pathogenic (★★) | |
| MYH7 G641A | 641 | Myosin motor | Pathogenic / likely pathogenic (★★) |
| TNNT2 R136W | 136 | Pathogenic / likely pathogenic (★★) | |
| TNNT2 R151W | 151 | Pathogenic / likely pathogenic (★★) | |
| TPM1 M141I | 141 | Coiled coil | Pathogenic / likely pathogenic (★) |
| TPM1 A166T | 166 | Coiled coil | Pathogenic / likely pathogenic (★) |
| MYH7 I285T | 285 | Myosin motor | Pathogenic / likely pathogenic (★) |
| MYH7 P600S | 600 | Myosin motor | Pathogenic / likely pathogenic (★) |
| MYH7 R783G | 783 | IQ | Pathogenic / likely pathogenic (★) |
| TPM1 E114G | 114 | Coiled coil | Pathogenic / likely pathogenic (★) |
| TPM1 E156G | 156 | Coiled coil | Pathogenic / likely pathogenic (★) |
| MYH7 A1906G | 1906 | Coiled coil | Pathogenic / likely pathogenic (★) |
| TNNT2 E128K | 128 | Pathogenic / likely pathogenic (★) | |
| CSRP3 W140C | 140 | LIM zinc-binding 2 | Pathogenic / likely pathogenic |
| TPM1 M8R | 8 | Coiled coil | Pathogenic / likely pathogenic |
| TPM1 E139V | 139 | Coiled coil | Pathogenic / likely pathogenic |
| LMNA L162P | 162 | IF rod | Pathogenic / likely pathogenic |
| RBM20 Q598P | 598 | Pathogenic / likely pathogenic | |
| SCN5A I1593T | 1593 | IV | Pathogenic / likely pathogenic |
| TNNI3 M155T | 155 | Pathogenic / likely pathogenic | |
| TNNT2 K207E | 207 | Pathogenic / likely pathogenic | |
| CSRP3 T16S | 16 | LIM zinc-binding 1 | Pathogenic / likely pathogenic |
| TNNT2 K200N | 200 | Pathogenic / likely pathogenic | |
| MYBPC3 R654G | 654 | Ig-like C2-type 5 | Pathogenic / likely pathogenic |
| TNNI3 E184K | 184 | Pathogenic / likely pathogenic |
Which prediction tools work for Primary dilated cardiomyopathy
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- REVEL: 97 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 93 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- MetaLR: 93 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 91 out of 100
- AlphaMissense: 87 out of 100
- EVE: 82 out of 100
- SIFT: 79 out of 100
- PolyPhen-2: 79 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- MutPred2: 78 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- phyloP: 70 out of 100
Same protein, different disease
- Hypertrophic cardiomyopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (239 pathogenic / likely pathogenic).
- Dilated cardiomyopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (21 pathogenic / likely pathogenic).
- Myosin storage myopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (13 pathogenic / likely pathogenic).
- MYH7-related skeletal myopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (7 pathogenic / likely pathogenic).
- Familial cardiomyopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (7 pathogenic / likely pathogenic).
- Hypertrophic cardiomyopathy also has ClinVar records linked to TNNT2 variants; they fall partly in the same places as the Primary dilated cardiomyopathy variants (20 pathogenic / likely pathogenic).
- Dilated cardiomyopathy also has ClinVar records linked to TNNT2 variants; they fall partly in the same places as the Primary dilated cardiomyopathy variants (18 pathogenic / likely pathogenic).
- Cardiomyopathy, familial restrictive, 3 also has ClinVar records linked to TNNT2 variants; they fall partly in the same places as the Primary dilated cardiomyopathy variants (16 pathogenic / likely pathogenic).
- Hypertrophic cardiomyopathy also has ClinVar records linked to TPM1 variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (15 pathogenic / likely pathogenic).
- Dilated cardiomyopathy also has ClinVar records linked to TPM1 variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (6 pathogenic / likely pathogenic).
- Charcot-Marie-Tooth disease also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (130 pathogenic / likely pathogenic).
- Dilated cardiomyopathy also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (21 pathogenic / likely pathogenic).
- Familial partial lipodystrophy, Dunnigan type also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (13 pathogenic / likely pathogenic).
- Emery-Dreifuss muscular dystrophy also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (12 pathogenic / likely pathogenic).
- Congenital muscular dystrophy due to LMNA mutation also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (11 pathogenic / likely pathogenic).
- Desmin-related myofibrillar myopathy also has ClinVar records linked to DES variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (37 pathogenic / likely pathogenic).
- Dilated cardiomyopathy also has ClinVar records linked to DES variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (5 pathogenic / likely pathogenic).
- Neurogenic scapuloperoneal syndrome, Kaeser type also has ClinVar records linked to DES variants; they fall mostly in different places as the Primary dilated cardiomyopathy variants (3 pathogenic / likely pathogenic).
- Dilated cardiomyopathy 1DD also has ClinVar records linked to RBM20 variants; they fall partly in the same places as the Primary dilated cardiomyopathy variants (4 pathogenic / likely pathogenic).
Diseases related to Primary dilated cardiomyopathy
- Dilated cardiomyopathy, also linked to ACTC1, ANKRD1, CSRP3, DES and 8 more
- Familial isolated dilated cardiomyopathy, also linked to ACTC1, CSRP3, DES, MYH6 and 6 more
- Hypertrophic cardiomyopathy, also linked to ACTC1, CSRP3, MYBPC3, MYH6 and 5 more
- Primary familial dilated cardiomyopathy, also linked to DES, LMNA, MYH6, MYH7 and 2 more
- Primary familial hypertrophic cardiomyopathy, also linked to ACTN2, MYBPC3, MYH6, MYH7 and 1 more
- Left ventricular noncompaction, also linked to ACTC1, MYBPC3, MYH7, TNNT2 and 1 more
- Atrial septal defect, also linked to ACTC1, MYH6 and TPM1
- Familial cardiomyopathy, also linked to LMNA, MYH7 and TPM1
- Cardiomyopathy, familial restrictive, 3, also linked to TNNI3 and TNNT2
- Restrictive cardiomyopathy, also linked to MYH7 and TNNI3
- Sick sinus syndrome 2, autosomal dominant, also linked to MYH6 and SCN5A
- Arrhythmogenic right ventricular cardiomyopathy, also linked to DES and MYH7
Frequently asked questions
Which genes have records linked to Primary dilated cardiomyopathy?
This view contains 15 analyzed proteins: MYH7, TNNT2, TPM1, LMNA, DES and 10 more. 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 46 pathogenic or likely pathogenic variants, 215 variants of uncertain significance and 53 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 321 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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