Gene Information
myosin binding protein C3 [Source:HGNC Symbol;Acc:HGNC:7551]
MYBPC3 variants are associated with 2 diseases including left ventricular noncompaction and familial isolated dilated cardiomyopathy, with 41 documented clinical phenotypes.
The MYBPC3 gene is associated with 2 medical conditions, including:
Research has identified 41 phenotypic features associated with MYBPC3 variants:
Cardiomegaly
HP:0001640
Increased left ventricular end-diastolic volume
HP:0033755
Congestive heart failure
HP:0001635
Complete right bundle branch block
HP:0011712
Left bundle branch block
HP:0011713
Myofiber disarray
HP:0031318
Reduced left ventricular ejection fraction
HP:0012664
Transient ischemic attack
HP:0002326
Autosomal dominant inheritance
HP:0000006
Myopathy
HP:0003198
Left ventricular noncompaction
HP:0030682
Muscular ventricular septal defect
HP:0011623
Stroke
HP:0001297
Ventricular fibrillation
HP:0001663
Ascites
HP:0001541
ClinVar contains 10 variants associated with MYBPC3. Below are some notable variants:
NM_000256.3(MYBPC3):c.3608C>T (p.Ala1203Val)
Uncertain significanceVCV004527938
Review: criteria provided, single submitter
NM_000256.3(MYBPC3):c.592_593del (p.Asp198fs)
Likely pathogenicVCV004294335
Review: criteria provided, single submitter
NM_000256.3(MYBPC3):c.534_541del (p.Ala179fs)
PathogenicVCV004293017
Review: criteria provided, single submitter
NM_000256.3(MYBPC3):c.1624_1624+1delinsAGCTCAT
Likely pathogenicVCV004292346
Review: criteria provided, single submitter
NM_000256.3(MYBPC3):c.3794_3797del (p.Glu1265fs)
Likely pathogenicVCV004292248
Review: criteria provided, single submitter
There are 397 publications about MYBPC3 indexed in PubMed. Below are some recent papers:
Myosin-binding protein H-like nonsense variants exhibit impaired sarcomere incorporation and alter contractility.
Alvarez-Arce A, Fritzmann GE, Burnham HV
PMID: 41258892
•
2026 Jan 5
•
J Gen Physiol
Missense variants in the myosin binding domains of MYBPC3 and MYBPHL impair sarcomere incorporation.
Araujo KN, Cizauskas HE, Yildiz Y
PMID: 41256400
•
2025 Oct 1
•
bioRxiv
Hypertrophic Cardiomyopathy Mimicking a Primary Cardiac Tumor: Case Report and Review of Molecular Genetic Findings.
Williams HL, Mahar T
PMID: 41243138
•
2025 Dec 1
•
Am J Forensic Med Pathol
Myosin motor dynamics and cardiac function: Insights from in vivo small-angle X-ray scattering and pressure-volume analysis.
Pearson JT, Waddingham MT, Tsuchimochi H
PMID: 41214456
•
2025 Nov 10
•
J Physiol
Genetic determinants of the phenotype in a Swedish cohort of patients with hypertrophic cardiomyopathy.
Antheia K, Eva F, Jan-Erik K
PMID: 41214182
•
2025 Nov 10
•
Sci Rep
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Last updated: 11/20/2025