TNNC1

Summary

TNNC1 (troponin C1, slow skeletal and cardiac type, HGNC:11943) is a protein-coding gene on chromosome 3p21.1, encoding Troponin C, slow skeletal and cardiac muscles (P63316). Troponin is the central regulatory protein of striated muscle contraction.

Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z.

Source: NCBI Gene 7134 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypertrophic cardiomyopathy (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 6
• Clinical variants (ClinVar): 395 total — 5 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 32
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_003280

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11943
Approved symbol	TNNC1
Name	troponin C1, slow skeletal and cardiac type
Location	3p21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000114854
Ensembl biotype	protein_coding
OMIM	191040
Entrez	7134

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000232975, ENST00000461086, ENST00000496590

RefSeq mRNA: 1 — MANE Select: NM_003280 NM_003280

CCDS: CCDS2857

Canonical transcript exons

ENST00000232975 — 6 exons

Exon	Start	End
ENSE00000770830	52451391	52451527
ENSE00000770831	52451744	52451858
ENSE00000770833	52452483	52452513
ENSE00001063786	52453992	52454041
ENSE00001063787	52451100	52451306
ENSE00003465418	52452106	52452252

Expression profiles

Bgee: expression breadth ubiquitous, 207 present calls, max score 99.99.

FANTOM5 (CAGE): breadth broad, TPM avg 60.7134 / max 16607.6591, expressed in 535 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42433	60.1211	529
42428	0.2072	47
42429	0.1716	36
42427	0.0985	34
42430	0.0622	25
42431	0.0376	14
42432	0.0152	7

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
triceps brachii	UBERON:0001509	99.99	gold quality
gluteal muscle	UBERON:0002000	99.99	gold quality
heart right ventricle	UBERON:0002080	99.99	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.99	gold quality
diaphragm	UBERON:0001103	99.98	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.98	gold quality
left ventricle myocardium	UBERON:0006566	99.98	gold quality
biceps brachii	UBERON:0001507	99.97	gold quality
vastus lateralis	UBERON:0001379	99.96	gold quality
quadriceps femoris	UBERON:0001377	99.95	gold quality
apex of heart	UBERON:0002098	99.94	gold quality
skeletal muscle tissue	UBERON:0001134	99.93	gold quality
gastrocnemius	UBERON:0001388	99.93	gold quality
myocardium	UBERON:0002349	99.93	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.93	gold quality
cardiac atrium	UBERON:0002081	99.90	gold quality
right atrium auricular region	UBERON:0006631	99.90	gold quality
tibialis anterior	UBERON:0001385	99.89	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.87	gold quality
deltoid	UBERON:0001476	99.80	gold quality
cardiac ventricle	UBERON:0002082	99.80	gold quality
heart left ventricle	UBERON:0002084	99.80	gold quality
body of tongue	UBERON:0011876	99.78	gold quality
vena cava	UBERON:0004087	99.37	gold quality
muscle organ	UBERON:0001630	99.27	gold quality
muscle of leg	UBERON:0001383	99.01	gold quality
heart	UBERON:0000948	98.34	gold quality
tibial nerve	UBERON:0001323	97.59	gold quality
muscle tissue	UBERON:0002385	97.10	gold quality
right lung	UBERON:0002167	95.94	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	8531.43
E-MTAB-10662	yes	486.06
E-MTAB-9388	yes	189.58
E-HCAD-1	yes	19.25
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA4, GATA5, HMGB2, SP1

miRNA regulators (miRDB)

21 targeting TNNC1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-1224-5P	99.48	65.59	803
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-5572	98.55	65.84	970
HSA-MIR-6776-5P	98.54	67.43	1304
HSA-MIR-1910-3P	98.44	67.51	1695
HSA-MIR-6511A-5P	98.13	67.47	1770
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-6855-5P	97.51	66.03	830
HSA-MIR-3170	95.84	64.32	721
HSA-MIR-324-5P	95.68	65.20	560

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Structure and dynamics of the C-domain of human cardiac troponin C in complex with the inhibitory region of human cardiac troponin I. (PMID:12732641)
• Data suggest that activation of cardiac myofilaments is tightly coupled to the open state of the N-domain of cardiac troponin C, and that pathological effects of phosphorylation are influenced by mutations in cardiac troponin I. (PMID:15147183)
• CTnI mutations mainly alter myocardial performance via changes in the Ca2+ -sensitivity of force development and in some cases alter the muscle relaxation kinetics. Review. (PMID:15524171)
• C helix moves away from the D helix in a distinct Ca(2+)-dependent manner, while the B helix does not. (PMID:15628883)
• Results describe the in situ structure of human cardiac troponin C. (PMID:15808858)
• The crystal structure of troponin suggests that the Ca2+-binding to the regulatory TnC site displaces the N-terminal portion of TnI from actin/tropomyosin, thereby altering mobility/flexibility of the troponin/tropomyosin strand on the actin filament. (PMID:16157639)
• Spin dipole-dipole interaction showed that in reconstituted muscle fibers both skeletal and cardiac TnC undergo Ca2+-induced structural change that is thought to be TnIreg movement. (PMID:16157641)
• Results imply a hindered transduction of the protein kinase A phosphorylation signal from cardiac troponin I to troponin C. (PMID:16302972)
• the mutation Gly159Asp causes a significant decrease in the rate of force production and a change in the relationship between the rate of force production and generated force in muscle (PMID:17021793)
• in the presence of phosphorylated cTnI, cTnC-G159D specifically blunted phosphorylation induced decrease in Ca(2+)-sensitive tension development without altering cross-bridge cycling in cardiac myofilament (PMID:17446435)
• Suggest that TnC Ca(2+) binding properties modulate the rate of cardiac muscle contraction at submaximal levels of Ca(2+) activation. (PMID:17693547)
• A novel mutation in the cardiac Troponin C gene has been identified recently in a family with dilated cardiomyopathy. (PMID:17977476)
• A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin (PMID:18032382)
• Modulation of cardiac troponin C function by the cardiac-specific N-terminus of troponin I: influence of PKA phosphorylation and involvement in cardiomyopathies. (PMID:18042489)
• kinetic analysis of cardiac troponin C mutants linked to familial hypertrophic and dilated cardiomyopathy in troponin complexes (PMID:18063575)
• These results suggest that the perturbations of the N-domain caused by the Trp mutation disturb the interaction between TnC and TnI, which in turn diminishes the activity in fibers. (PMID:18092822)
• A hypertrophic cardiomyopathy susceptibility gene. (PMID:18572189)
• development of dilated cardiomyopathy results from the poor anchoring of cTnI to cCTnC, with the resulting increase in the level of acto-myosin inhibition in agreement with physiological data (PMID:18803402)
• the desensitization of myofilaments from G159D-CTnC is expected to weaken the contractile force of the myocardium, whereas the lack of myofilament changes from L29Q-CTnC may preserve diastolic and systolic function. (PMID:18820258)
• analysis of troponin C mutations related to hypertrophic cardiomyopathy (PMID:19439414)
• plasma levels are associated with degree of vascular obstruction in patients with pulmonary embolism (PMID:19492165)
• (-)-Epigallocatechin gallate forms a ternary complex with the C-terminal domain of troponin C and the anchoring region of troponin I. (PMID:19542563)
• Functional analysis of a unique troponin c mutation, GLY159ASP, that causes familial dilated cardiomyopathy, studied in explanted heart muscle. (PMID:19808376)
• cardiac troponin switches between alternative sets of intramolecular interactions, similar to previous intermediate resolution x-ray data of skeletal muscle troponin (PMID:19920153)
• The intrinsic properties of TnC and its interactions with other contractile proteins play a crucial role in modulating the binding of calcium to TnC in increasingly complex biochemical systems. (PMID:20128626)
• Four private protein-altering variants were identified in troponin C type 1 in 4 probands. (PMID:20215591)
• the dilated cardiomyopathy troponin C mutation lowers contractile force by reducing strong myosin-actin binding (PMID:20371872)
• After acute myocardial infarction, cTnI is present in serum as the ternary cTnT-cTnI-TnC (TIC) complex and binary cTnI-TnC (IC) complex. (PMID:20378771)
• Calcium binding properties of the carboxy terminal-domain sites might be important for the proper regulatory function of cardiac troponin C. (PMID:20459070)
• A region in cTnC associated with increased Ca(2+) sensitivity in skinned fibers was identified, an the F27W reporter mutation affected Ca(2+) sensitivity, maximal force, and ATPase activation of some mutants. (PMID:20566645)
• analysis of order and disorder in troponin C, T and I (PMID:20889975)
• strong cross-bridges potentiate the Ca(2+)-sensitizing effect of hypertrophic cardiomyopathy-cTnC mutants on the myofilament (PMID:21056975)
• Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy. (PMID:21832052)
• The study examines TNC for its ability of binding Ca2+ and furthermore determines the molecular contributions to Ca2+ binding kinetics. (PMID:22329450)
• Cardiomyopathy-linked TnC mutations affect the response of reconstituted thin filaments to calcium upon cardiac troponin (Tn)I phosphorylation. (PMID:22489623)
• Rationally engineered TnC constructs corrected the abnormal Ca(2+) sensitivities of the thin filament, reconstituted actomyosin ATPase activity (PMID:22511780)
• The L48Q mutation enhanced binding of both Ca(2+) and troponin I to cardiac troponin C. (PMID:22591429)
• The disease-related protein modifications alter Ca(2+) binding by influencing both the association and dissociation rates of thin filament Ca(2+) exchange. (PMID:22675533)
• a novel mutation in the TNNC1 gene is associated with HCM pathogenesis and may predispose to the pathogenesis of a fatal arrhythmogenic subtype of HCM (PMID:22815480)
• Significance of troponin dynamics for Ca2+-mediated regulation of contraction and inherited cardiomyopathy. (PMID:23066014)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tnnc1b	ENSDARG00000037539
mus_musculus	Tnnc1	ENSMUSG00000091898
rattus_norvegicus	Tnnc1	ENSRNOG00000018943

Paralogs (1): TNNC2 (ENSG00000101470)

Protein

Protein identifiers

Troponin C, slow skeletal and cardiac muscles — P63316 (reviewed: P63316)

All UniProt accessions (3): P63316, C9JDI3, Q6FH91

UniProt curated annotations — full annotation on UniProt →

Function. Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.

Disease relevance. Cardiomyopathy, dilated, 1Z (CMD1Z) [MIM:611879] A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry. Cardiomyopathy, familial hypertrophic, 13 (CMH13) [MIM:613243] A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Cardiac muscle Tn-C can bind 3 calcium ions per molecule. Domain I does not bind calcium.

Similarity. Belongs to the troponin C family.

RefSeq proteins (1): NP_003271* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR050230	CALM/Myosin/TropC-like	Family

Pfam: PF13499, PF13833

UniProt features (50 total): binding site 15, helix 9, strand 8, sequence variant 6, domain 4, turn 3, modified residue 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

61 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
3SD6	X-RAY DIFFRACTION	1.37
4GJE	X-RAY DIFFRACTION	1.6
3SWB	X-RAY DIFFRACTION	1.67
7SC2	X-RAY DIFFRACTION	1.81
4GJF	X-RAY DIFFRACTION	1.9
4GJG	X-RAY DIFFRACTION	2
4Y99	X-RAY DIFFRACTION	2
1WRK	X-RAY DIFFRACTION	2.15
3RV5	X-RAY DIFFRACTION	2.2
7SC3	X-RAY DIFFRACTION	2.23
1WRL	X-RAY DIFFRACTION	2.6
1J1D	X-RAY DIFFRACTION	2.61
8FMO	X-RAY DIFFRACTION	2.61
8FMT	X-RAY DIFFRACTION	2.8
8FMN	X-RAY DIFFRACTION	3.1
8FMM	X-RAY DIFFRACTION	3.11
8FMR	X-RAY DIFFRACTION	3.24
8FMP	X-RAY DIFFRACTION	3.24
8FMQ	X-RAY DIFFRACTION	3.25
1J1E	X-RAY DIFFRACTION	3.3
8FMS	X-RAY DIFFRACTION	3.44
6KN8	ELECTRON MICROSCOPY	4.8
7UTI	ELECTRON MICROSCOPY	4.8
6KN7	ELECTRON MICROSCOPY	6.6
7UTL	ELECTRON MICROSCOPY	6.6
1AP4	SOLUTION NMR
1IH0	SOLUTION NMR
1LXF	SOLUTION NMR
1MXL	SOLUTION NMR
1OZS	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P63316-F1	80.02	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (15): 105; 107; 109; 111; 116; 141; 143; 145; 147; 152; 65; 67 …

Post-translational modifications (2): 1, 98

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-390522	Striated Muscle Contraction

MSigDB gene sets: 250 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, GOBP_SKELETAL_MUSCLE_ADAPTATION, GOBP_NEGATIVE_REGULATION_OF_ATP_DEPENDENT_ACTIVITY, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, MEF2_02, GGGTGGRR_PAX4_03, GOBP_SKELETAL_MUSCLE_CONTRACTION, CAGCTG_AP4_Q5, GNF2_MYL3, RODRIGUES_NTN1_TARGETS_DN, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS

GO Biological Process (10): diaphragm contraction (GO:0002086), skeletal muscle contraction (GO:0003009), regulation of muscle contraction (GO:0006937), response to metal ion (GO:0010038), transition between fast and slow fiber (GO:0014883), muscle filament sliding (GO:0030049), regulation of muscle filament sliding speed (GO:0032972), ventricular cardiac muscle tissue morphogenesis (GO:0055010), cardiac muscle contraction (GO:0060048), cardiac muscle cell contraction (GO:0086003)

GO Molecular Function (9): calcium ion binding (GO:0005509), troponin I binding (GO:0031013), troponin T binding (GO:0031014), protein homodimerization activity (GO:0042803), calcium-dependent protein binding (GO:0048306), actin filament binding (GO:0051015), protein binding (GO:0005515), cytoskeletal protein binding (GO:0008092), metal ion binding (GO:0046872)

GO Cellular Component (5): cytosol (GO:0005829), troponin complex (GO:0005861), sarcomere (GO:0030017), cardiac Troponin complex (GO:1990584), contractile muscle fiber (GO:0043292)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Muscle contraction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
striated muscle contraction	2
muscle contraction	2
cytoskeletal protein binding	2
protein binding	2
cytoplasm	2
cellular anatomical structure	2
involuntary skeletal muscle contraction	1
respiratory system process	1
musculoskeletal movement	1
regulation of muscle system process	1
response to chemical	1
regulation of skeletal muscle adaptation	1
actin-myosin filament sliding	1
regulation of muscle filament sliding	1
regulation of biological quality	1
cardiac ventricle morphogenesis	1
ventricular cardiac muscle tissue development	1
cardiac muscle tissue morphogenesis	1
heart contraction	1
cardiac muscle contraction	1
actin-mediated cell contraction	1
metal ion binding	1
identical protein binding	1
protein dimerization activity	1
calcium ion binding	1
actin binding	1
protein-containing complex binding	1
binding	1
cation binding	1
striated muscle thin filament	1
protein-containing complex	1
myofibril	1
troponin complex	1
intracellular membraneless organelle	1
supramolecular fiber	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

27 interactions, top by confidence:

A	B	Type	Score
TNNI1	TNNC1	psi-mi:“MI:0915”(physical association)	0.700
TNNI3	TNNC1	psi-mi:“MI:2364”(proximity)	0.670
TNNI3	TNNC1	psi-mi:“MI:0915”(physical association)	0.670
TNNC1	TNNI3	psi-mi:“MI:0915”(physical association)	0.670
TNNC1	TNNI2	psi-mi:“MI:0407”(direct interaction)	0.590
TNNI2	TNNC1	psi-mi:“MI:0914”(association)	0.590
NPPA	VGF	psi-mi:“MI:0914”(association)	0.530
TNNC1	HSPA8	psi-mi:“MI:0915”(physical association)	0.400
CDK1	TNNC1	psi-mi:“MI:0915”(physical association)	0.370
POLR2G	TNNC1	psi-mi:“MI:0915”(physical association)	0.370
TNNC1	UBE2C	psi-mi:“MI:0915”(physical association)	0.370
TNNC1	RBM15B	psi-mi:“MI:0915”(physical association)	0.370
TCP10L	TNNC1	psi-mi:“MI:0915”(physical association)	0.370
TNNC1	MYO1B	psi-mi:“MI:0914”(association)	0.350
TNNC1	KCNN4	psi-mi:“MI:0914”(association)	0.350
CD33	SPAG9	psi-mi:“MI:0914”(association)	0.350
MFGE8	MYH7B	psi-mi:“MI:0914”(association)	0.350
MRPS23	MYH7B	psi-mi:“MI:0914”(association)	0.350
SCCPDH	IPO5	psi-mi:“MI:0914”(association)	0.350
TTC4	MYH7B	psi-mi:“MI:0914”(association)	0.350
TNNI1	TNNC1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (46): TNNT1 (Two-hybrid), TNNC1 (Biochemical Activity), TNNC1 (Reconstituted Complex), TNNC1 (Reconstituted Complex), TNNC1 (Reconstituted Complex), TNNI3 (Reconstituted Complex), TNNC1 (FRET), TNNI3 (FRET), TNNI1 (Two-hybrid), TNNC1 (Proximity Label-MS), TNNI3 (Co-crystal Structure), IQCD (Affinity Capture-MS), TNNI3 (Protein-peptide), MYO1B (Affinity Capture-MS), FBXO30 (Affinity Capture-MS)

ESM2 similar proteins: D2DGW3, O14008, P02585, P02586, P02587, P02588, P02589, P02591, P05936, P06706, P06707, P06708, P07461, P09860, P10246, P13833, P15159, P15845, P19123, P20801, P21797, P21798, P29289, P29290, P29291, P35622, P47947, P47948, P47949, P63315, P63316, P63317, P80322, P81660, Q09665, Q1A7B1, Q1A7B2, Q1A7B3, Q2R1Z5, Q39584

Diamond homologs: A2WN93, A2WNH1, A2Y609, A3E3H0, A3E4D8, A3E4F9, A4UHC0, A8CEP3, A8I1Q0, D2DGW3, O16305, O60041, O82018, O94739, O96081, O96102, O97341, P02585, P02586, P02587, P02588, P02589, P02591, P02597, P02598, P04352, P04353, P04464, P05419, P05933, P05936, P06706, P06707, P06708, P06787, P07463, P09860, P0DH95, P0DH96, P0DH97

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

395 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	6
Uncertain significance	213
Likely benign	133
Benign	7

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
1297661	NM_003280.3(TNNC1):c.317+1G>A	Pathogenic
1687145	NM_003280.3(TNNC1):c.454G>A (p.Glu152Lys)	Pathogenic
2573114	NM_003280.3(TNNC1):c.100G>C (p.Gly34Arg)	Pathogenic
2573165	NM_003280.3(TNNC1):c.12C>G (p.Ile4Met)	Pathogenic
39832	NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser)	Pathogenic
1066522	NM_003280.3(TNNC1):c.168G>C (p.Glu56Asp)	Likely pathogenic
12441	NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp)	Likely pathogenic
181564	NM_003280.3(TNNC1):c.290T>A (p.Leu97Gln)	Likely pathogenic
181570	NM_003280.3(TNNC1):c.8A>T (p.Asp3Val)	Likely pathogenic
235060	NM_003280.3(TNNC1):c.161C>A (p.Pro54His)	Likely pathogenic
265272	NM_003280.3(TNNC1):c.141G>T (p.Met47Ile)	Likely pathogenic

SpliceAI

632 predictions. Top by Δscore:

Variant	Effect	Δscore
3:52451385:GCTTA:G	donor_loss	1.0000
3:52451386:CTTAC:C	donor_loss	1.0000
3:52451387:TTA:T	donor_loss	1.0000
3:52451388:TACCA:T	donor_loss	1.0000
3:52451390:CCAT:C	donor_gain	1.0000
3:52451523:CATTT:C	acceptor_gain	1.0000
3:52451524:ATTT:A	acceptor_gain	1.0000
3:52451525:TTT:T	acceptor_gain	1.0000
3:52451526:TT:T	acceptor_gain	1.0000
3:52451526:TTC:T	acceptor_loss	1.0000
3:52451527:TC:T	acceptor_loss	1.0000
3:52451528:C:CA	acceptor_loss	1.0000
3:52451528:C:CC	acceptor_gain	1.0000
3:52451529:T:A	acceptor_loss	1.0000
3:52451741:CACTT:C	donor_loss	1.0000
3:52451742:A:AC	donor_gain	1.0000
3:52451743:C:A	donor_loss	1.0000
3:52451743:C:CA	donor_gain	1.0000
3:52451743:CTTGT:C	donor_gain	1.0000
3:52451777:T:TA	donor_gain	1.0000
3:52452104:ACCGT:A	donor_gain	1.0000
3:52452105:CCGTC:C	donor_gain	1.0000
3:52452108:T:TA	donor_gain	1.0000
3:52452248:GAACT:G	acceptor_gain	1.0000
3:52452249:AACT:A	acceptor_gain	1.0000
3:52452250:ACT:A	acceptor_gain	1.0000
3:52452251:CT:C	acceptor_gain	1.0000
3:52452251:CTC:C	acceptor_gain	1.0000
3:52452252:TCT:T	acceptor_gain	1.0000
3:52452253:C:CC	acceptor_gain	1.0000

AlphaMissense

1110 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:52451438:A:G	L136P	0.999
3:52451495:A:G	L117P	0.999
3:52451830:G:C	F77L	0.999
3:52451830:G:T	F77L	0.999
3:52451831:A:G	F77S	0.999
3:52451832:A:G	F77L	0.999
3:52452138:A:G	L57P	0.999
3:52452186:A:G	L41P	0.999
3:52452236:G:C	F24L	0.999
3:52452236:G:T	F24L	0.999
3:52452238:A:G	F24L	0.999
3:52451510:A:T	I112N	0.998
3:52451758:G:C	F101L	0.998
3:52451758:G:T	F101L	0.998
3:52451759:A:G	F101S	0.998
3:52451760:A:G	F101L	0.998
3:52451762:A:G	L100P	0.998
3:52451828:A:G	L78P	0.998
3:52452115:C:G	D65H	0.998
3:52452201:A:T	I36N	0.998
3:52451303:A:G	F153S	0.997
3:52451423:T:G	D141A	0.997
3:52451424:C:G	D141H	0.997
3:52451483:A:G	L121P	0.997
3:52451516:C:A	G110V	0.997
3:52451747:T:G	D105A	0.997
3:52451748:C:G	D105H	0.997
3:52451831:A:C	F77C	0.997
3:52451846:A:T	V72E	0.997
3:52452162:C:A	G49V	0.997

dbSNP variants (sampled 300 via entrez): RS1000067493 (3:52452461 C>A,T), RS1000792863 (3:52452995 C>T), RS1001747953 (3:52453097 T>C), RS1003456540 (3:52454209 C>A,T), RS1003762353 (3:52455912 C>T), RS1003796150 (3:52450768 C>A), RS1003856691 (3:52454835 C>T), RS1004053964 (3:52455148 C>T), RS1004396803 (3:52455308 G>A), RS1005720856 (3:52453819 C>G,T), RS1007000952 (3:52450939 G>A,C), RS1007416970 (3:52453041 A>G), RS1007743848 (3:52452401 G>C,T), RS1008677119 (3:52451506 G>T), RS1009830063 (3:52450848 A>C)

Disease associations

OMIM: gene MIM:191040 | disease phenotypes: MIM:611879, MIM:613243, MIM:613426

GenCC curated gene-disease

Disease	Classification	Inheritance
dilated cardiomyopathy 1Z	Definitive	Autosomal dominant
hypertrophic cardiomyopathy	Definitive	Autosomal dominant
hypertrophic cardiomyopathy 13	Definitive	Autosomal dominant
familial isolated dilated cardiomyopathy	Supportive	Autosomal dominant
arrhythmogenic right ventricular cardiomyopathy	No Known Disease Relationship	Autosomal dominant

ClinGen Gene-Disease Validity (3)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
hypertrophic cardiomyopathy	Definitive	AD
dilated cardiomyopathy 1Z	Definitive	AD
arrhythmogenic right ventricular cardiomyopathy	No Known Disease Relationship	AD

Mondo (8): dilated cardiomyopathy 1Z (MONDO:0012745), hypertrophic cardiomyopathy 13 (MONDO:0013195), hypertrophic cardiomyopathy (MONDO:0005045), cardiomyopathy (MONDO:0004994), dilated cardiomyopathy 1S (MONDO:0013262), dilated cardiomyopathy (MONDO:0005021), arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587), (MONDO:0015470)

Orphanet (5): Familial isolated dilated cardiomyopathy (Orphanet:154), Rare hypertrophic cardiomyopathy (Orphanet:217569), Rare cardiomyopathy (Orphanet:167848), Left ventricular noncompaction (Orphanet:54260), Dilated cardiomyopathy (Orphanet:217604)

HPO phenotypes

32 total (30 of 32 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000969	Edema
HP:0001279	Syncope
HP:0001635	Congestive heart failure
HP:0001639	Hypertrophic cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0001645	Sudden cardiac death
HP:0001663	Ventricular fibrillation
HP:0001681	Angina pectoris
HP:0001727	Thromboembolic stroke
HP:0002094	Dyspnea
HP:0002875	Exertional dyspnea
HP:0003198	Myopathy
HP:0003457	EMG abnormality
HP:0003584	Late onset
HP:0003596	Middle age onset
HP:0003621	Juvenile onset
HP:0005110	Atrial fibrillation
HP:0005157	Concentric hypertrophic cardiomyopathy
HP:0011462	Young adult onset
HP:0011675	Arrhythmia
HP:0011711	Left anterior fascicular block
HP:0011712	Complete right bundle branch block
HP:0012250	ST segment depression
HP:0012378	Fatigue
HP:0012664	Reduced left ventricular ejection fraction
HP:0012764	Orthopnea
HP:0025169	Left ventricular systolic dysfunction
HP:0100578	Lipoatrophy

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001241_15	Bipolar disorder	2.000000e-06
GCST002149_14	Schizophrenia	1.000000e-08
GCST004521_123	Autism spectrum disorder or schizophrenia	3.000000e-12
GCST004521_201	Autism spectrum disorder or schizophrenia	4.000000e-08
GCST006950_52	Feeling worry	2.000000e-09
GCST90020025_1959	Waist-to-hip ratio adjusted for BMI	1.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009589	worry measurement
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D019571	Arrhythmogenic Right Ventricular Dysplasia	C14.240.400.145; C14.280.238.028; C14.280.400.145; C16.131.240.400.145
D009202	Cardiomyopathies	C14.280.238
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
C563538	Cardiomyopathy, Dilated, 1s (supp.)
C567506	Cardiomyopathy, Dilated, 1z (supp.)
C567686	Cardiomyopathy, Familial Hypertrophic, 13 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2066 (SINGLE PROTEIN), CHEMBL2095202 (PROTEIN COMPLEX)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 19,160 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL314854	FINGOLIMOD	4	16,015
CHEMBL2051955	LEVOSIMENDAN	3	3,145

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

90 potent at pChembl≥5 of 136 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.78	EC50	164.6	nM	CHEMBL3195681
6.78	EC50	165.1	nM	CHEMBL1581326
6.72	EC50	190.7	nM	CHEMBL3195851
6.55	EC50	278.9	nM	CHEMBL1468444
6.54	EC50	286.9	nM	CHEMBL1379673
6.40	EC50	397	nM	CHEMBL1477915
6.38	EC50	413	nM	CHEMBL1398812
6.30	EC50	500.5	nM	CHEMBL1369691
6.29	EC50	515.8	nM	CHEMBL1573529
6.25	IC50	558.1	nM	PYROGALLOL RED
6.25	EC50	565.4	nM	CHEMBL3197404
6.21	EC50	615.4	nM	CHEMBL1388372
6.17	IC50	676.8	nM	CHEMBL1425538
6.13	EC50	742	nM	CHEMBL1604510
6.12	EC50	760.7	nM	CHEMBL1550816
6.07	EC50	852.9	nM	CHEMBL1725987
6.06	EC50	869.6	nM	CHEMBL1586687
5.96	EC50	1101	nM	CHEMBL1975147
5.95	EC50	1113	nM	CHEMBL1313968
5.94	EC50	1143	nM	CHEMBL1429070
5.94	EC50	1137	nM	CHEMBL1310204
5.92	EC50	1209	nM	CHEMBL1713654
5.86	EC50	1369	nM	CHEMBL1501273
5.84	EC50	1438	nM	CHEMBL1977499
5.83	EC50	1465	nM	CHEMBL1499258
5.82	Kd	1500	nM	CHEMBL169107
5.81	EC50	1537	nM	CHEMBL1542169
5.81	EC50	1548	nM	CHEMBL1574521
5.80	EC50	1577	nM	CHEMBL1407632
5.79	IC50	1640	nM	CHEMBL1563898
5.74	IC50	1819	nM	CHEMBL1356785
5.74	EC50	1830	nM	CHEMBL1586067
5.73	EC50	1863	nM	CHEMBL1971695
5.73	EC50	1878	nM	CHEMBL1576905
5.72	Kd	1900	nM	CHEMBL1191567
5.70	EC50	1981	nM	CHEMBL1701437
5.69	EC50	2022	nM	CHEMBL1466913
5.66	EC50	2177	nM	CHEMBL1576602
5.65	EC50	2218	nM	CHEMBL1462008
5.62	Kd	2400	nM	CHEMBL485099
5.62	EC50	2385	nM	CHEMBL1540557
5.59	EC50	2576	nM	CHEMBL1466606
5.59	EC50	2574	nM	CHEMBL1725983
5.57	IC50	2724	nM	CHEMBL1362935
5.57	EC50	2706	nM	CHEMBL1557186
5.56	EC50	2780	nM	CHEMBL2004884
5.54	EC50	2901	nM	CHEMBL1547468
5.54	EC50	2918	nM	CHEMBL1311198
5.50	IC50	3191	nM	CHEMBL1601846
5.48	Kd	3300	nM	CHEMBL5430893

PubChem BioAssay actives

10 with measured affinity, of 23 total; 6 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-amino-2-[2-(4-nonylphenyl)ethyl]propane-1,3-diol	1993241: Binding affinity to human recombinant full length N-terminal Alexa647-NHS labeled cardiac troponin C expressed in Escherichia coli BL21 (DE3) assessed as dissociation constant incubated for 20 mins by microscale thermophoresis analysis	kd	1.5000	uM
2-amino-2-[2-(4-decylphenyl)ethyl]propane-1,3-diol	1993241: Binding affinity to human recombinant full length N-terminal Alexa647-NHS labeled cardiac troponin C expressed in Escherichia coli BL21 (DE3) assessed as dissociation constant incubated for 20 mins by microscale thermophoresis analysis	kd	1.9000	uM
2-amino-2-[2-(4-heptylphenyl)ethyl]propane-1,3-diol	1993242: Binding affinity to human BADAN labeled cardiac troponin C expressed in Escherichia coli BL21 (DE3) assessed as dissociation constant in presence of Ca2+ by fluorescence based spectra analysis	kd	2.4000	uM
2-amino-2-[2-(4-hexylphenyl)ethyl]propane-1,3-diol	1993242: Binding affinity to human BADAN labeled cardiac troponin C expressed in Escherichia coli BL21 (DE3) assessed as dissociation constant in presence of Ca2+ by fluorescence based spectra analysis	kd	3.3000	uM
(4S)-4-[[(2S)-6-amino-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-5-amino-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S,3S)-2-amino-3-methylpentanoyl]amino]-3-hydroxypropanoyl]amino]propanoyl]amino]-3-carboxypropanoyl]amino]propanoyl]amino]-4-methylsulfanylbutanoyl]amino]-4-methylsulfanylbutanoyl]amino]-5-oxopentanoyl]amino]propanoyl]amino]-4-methylpentanoyl]amino]-4-methylpentanoyl]amino]acetyl]amino]propanoyl]amino]-5-(diaminomethylideneamino)pentanoyl]amino]propanoyl]amino]hexanoyl]amino]-5-[[(1S)-1-carboxy-2-hydroxyethyl]amino]-5-oxopentanoic acid	1802895: Fluorescence Polarization Assay from Article 10.1016/j.bioorg.2017.05.004: “Structure-based rational design of self-inhibitory peptides to disrupt the intermolecular interaction between the troponin subunits C and I in neuropathic pain.”	kd	4.2000	uM
Fingolimod	1993241: Binding affinity to human recombinant full length N-terminal Alexa647-NHS labeled cardiac troponin C expressed in Escherichia coli BL21 (DE3) assessed as dissociation constant incubated for 20 mins by microscale thermophoresis analysis	kd	5.0000	uM

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression, increases methylation	4
Tetrachlorodibenzodioxin	increases expression, decreases reaction	4
Doxorubicin	affects expression, increases expression	2
Quercetin	decreases expression, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
Esketamine	decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	increases expression	1
bisphenol A	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	increases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ormosil	affects binding, decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
incobotulinumtoxinA	decreases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Vorinostat	affects cotreatment, increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Calcium	affects binding	1
Cycloheximide	decreases reaction, increases expression	1
Succimer	affects cotreatment, increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Nickel	decreases expression	1

ChEMBL screening assays

8 unique, capped per target: 8 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5346244	Binding	Binding affinity to human recombinant full length N-terminal Alexa647-NHS labeled cardiac troponin C expressed in Escherichia coli BL21 (DE3) assessed as dissociation constant incubated for 20 mins by microscale thermophoresis analysis	Synthesis and Biophysical Characterization of Fingolimod Derivatives as Cardiac Troponin Antagonists. — ACS Med Chem Lett

Clinical trials (associated diseases)

327 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00879060	PHASE4	COMPLETED	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy
NCT01721967	PHASE4	COMPLETED	Ranolazine for the Treatment of Chest Pain in HCM Patients
NCT02948998	PHASE4	UNKNOWN	Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy
NCT03249272	PHASE4	TERMINATED	Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve
NCT04133532	PHASE4	COMPLETED	Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy
NCT06401343	PHASE4	RECRUITING	Use of SGLT2i in noHCM With HFpEF
NCT07103655	PHASE4	NOT_YET_RECRUITING	The Therapeutic Value of Mavacamten in Hypertrophic Cardiomyopathy With Mid-to-Apical Left Ventricular Obstruction
NCT07600177	PHASE4	RECRUITING	Mavacamten to Aficamten Transition in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	PHASE4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	PHASE4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	PHASE4	COMPLETED	123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846	PHASE4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	PHASE4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852	PHASE4	COMPLETED	Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT05034432	PHASE4	RECRUITING	The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05718128	PHASE4	RECRUITING	Clinical Study of Endocardial Myocardial Biopsy
NCT06964464	PHASE4	RECRUITING	Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
NCT00317967	PHASE3	COMPLETED	Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart
NCT00698074	PHASE3	UNKNOWN	Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy
NCT00821353	PHASE3	COMPLETED	Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy
NCT02431221	PHASE3	WITHDRAWN	Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure
NCT03470545	PHASE3	COMPLETED	Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT05174416	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive HCM
NCT05182658	PHASE3	ACTIVE_NOT_RECRUITING	Empagliflozin in Hypertrophic Cardiomyopathy
NCT05186818	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Placebo in Adults With Symptomatic oHCM
NCT05767346	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Metoprolol Succinate in Adults With Symptomatic oHCM
NCT06116968	PHASE3	COMPLETED	An Open-Label Study of Aficamten for Chinese Patients With Symptomatic oHCM
NCT06873828	PHASE3	NOT_YET_RECRUITING	Evaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter MonitoringEvaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter Monitoring
NCT07021976	PHASE3	RECRUITING	A Phase III Trial of HRS-1893 in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT07023341	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Learn More About How Well Aficamten Works in Japanese Participants With Symptomatic Obstructive Hypertrophic Cardiomyopathy