GENE REFERENCE / HGNC:7577

MYH7

myosin heavy chain 7

protein-coding gene14q11.2Gene information

What does this gene do?

The MYH7 gene provides instructions for making a protein known as myosin-7. This protein is found in heart (cardiac) muscle and in certain skeletal muscles, which are the muscles used for movement. Specifically, myosin-7 is found in type I skeletal muscle fibers, which are also known as slow-twitch fibers. These fibers are the primary component of skeletal muscles that do not tire easily, such as the muscles involved in maintaining posture.

Myosin-7 helps generate the mechanical force that is needed for muscles to contract. It combines with other proteins to form the thick filaments that are found within structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are composed of overlapping thick filaments and thin filaments. These thick and thin filaments undergo cycles of attachment and release, which allow the thin filaments to slide past the thick filaments. These movements shorten the sarcomere, which causes the muscle to contract. Regular contractions of cardiac muscle pump blood to the rest of the body, while the coordinated contraction and relaxation of skeletal muscles allow the body to move.

Source: MedlinePlus, National Library of Medicine. Source publication: 2026-04-13. Source review: 2026-04.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
arrhythmogenic right ventricular cardiomyopathyMONDO:0016587 · Evaluated 2019-08-06	Autosomal dominant	LimitedArrhythmogenic Right Ventricular Cardiomyopathy Gene Curation Expert Panel
hypertrophic cardiomyopathyMONDO:0005045 · Evaluated 2023-07-12	Autosomal dominant	DefinitiveHereditary Cardiovascular Disease Gene Curation Expert Panel
dilated cardiomyopathy 1SMONDO:0013262 · Evaluated 2026-03-04	Autosomal dominant	DefinitiveDilated Cardiomyopathy Gene Curation Expert Panel
MYH7-related skeletal myopathyMONDO:0008050 · Evaluated 2021-05-13	Autosomal dominant	DefinitiveCongenital Myopathies and Myasthenic Syndromes Gene Curation Expert Panel
congenital heart diseaseMONDO:0005453 · Evaluated 2024-02-12	Autosomal dominant	LimitedCongenital Heart Disease Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 6,001
Submissions for variants in or overlapping this gene: 16,269
Submissions explicitly reporting this gene: 16,100
Alleles reported pathogenic / likely pathogenic: 448
VariationIDs with uncertain significance: 3,037
VariationIDs with conflicting classifications: 555

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about MYH7?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 448 alleles in MYH7 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in MYH7.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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