GENE REFERENCE / HGNC:7576

MYH6

myosin heavy chain 6

protein-coding gene14q11.2Gene information

What does this gene do?

The MYH6 gene provides instructions for making a protein known as the cardiac alpha (α)-myosin heavy chain. This protein is found in heart (cardiac) muscle cells, where it forms part of a larger protein called type II myosin. Type II myosin helps generate the mechanical force that is needed for cardiac muscle to contract, allowing the heart to pump blood to the rest of the body.

Type II myosin is one of the major components of cell structures called sarcomeres. These structures are the basic units of muscle contraction. Sarcomeres are composed of thick filaments made up of type II myosin and thin filaments made up of another protein called actin. The overlapping thick and thin filaments attach to each other and release, which allows the filaments to move relative to one another so that muscles can contract. Sarcomeres also appear to have an important role in the early development of structures in the heart.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-11-19. Source review: 2013-08.

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
MYH-6 related congenital heart defectsMONDO:0800442 · Evaluated 2023-05-09	Autosomal dominant	DefinitiveCongenital Heart Disease Gene Curation Expert Panel
dilated cardiomyopathy 1EEMONDO:0013198 · Evaluated 2026-03-04	Autosomal dominant	LimitedDilated Cardiomyopathy Gene Curation Expert Panel
hypertrophic cardiomyopathyMONDO:0005045 · Evaluated 2023-07-12	Autosomal dominant	DisputedHereditary Cardiovascular 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: 3,119
Submissions for variants in or overlapping this gene: 7,247
Submissions explicitly reporting this gene: 7,122
Alleles reported pathogenic / likely pathogenic: 17
VariationIDs with uncertain significance: 1,766
VariationIDs with conflicting classifications: 166

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 MYH6?

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 17 alleles in MYH6 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 MYH6.

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

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