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Cardiomyopathy III: Hypertrophic Cardiomyopathy

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Related Experiment Video

Updated: May 20, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Population-based variation in cardiomyopathy genes.

Jessica R Golbus¹, Megan J Puckelwartz, John P Fahrenbach

¹Department of Medicine and Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.

Circulation. Cardiovascular Genetics

|July 6, 2012

Summary

Genetic variants in sarcomere genes like MYH7, MYBPC3, and TTN are linked to cardiomyopathy. Analysis of the 1000 Genomes Project reveals higher-than-expected pathogenic variation frequencies, suggesting complex genetic contributions to hypertrophic and dilated cardiomyopathy.

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Last Updated: May 20, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Area of Science:

Genetics
Cardiology
Genomic Medicine

Background:

Hypertrophic cardiomyopathy and dilated cardiomyopathy are linked to mutations in sarcomere protein genes (MYH7, MYBPC3, TTN).
Genetic diagnosis requires sequencing gene coding regions, as pathogenic variations are often rare.
The 1000 Genomes Project offers extensive whole genome data for identifying common and rare genetic variants.

Purpose of the Study:

To analyze exonic variants in MYH7, MYBPC3, and TTN within the 1000 Genomes Project database.
To identify and characterize protein-altering variations in key cardiomyopathy-associated genes.
To assess the frequency of these variants in a large, diverse population.

Main Methods:

Queried the 1000 Genomes Project database (1092 individuals).
Focused on exonic variants within MYH7, MYBPC3, and TTN.
Analyzed protein-altering variations: nonsynonymous SNPs, indels, and splice site variants.

Main Results:

Identified known and predicted pathogenic variants in MYBPC3 and MYH7 at higher frequencies than expected for cardiomyopathy prevalence.
Observed substantial variation, including protein-disrupting sequences, in the TTN gene.
Found a high prevalence of TTN insertion/deletion variants in the cohort.

Conclusions:

Cardiomyopathy is genetically heterogeneous, involving mutations in multiple genes.
Many predicted pathogenic variants may not cause disease alone but can modify phenotype in susceptible individuals.
Broad genetic testing is recommended due to the potential for modifying genetic variants influencing cardiomyopathy.