GENE REFERENCE / HGNC:2213

COL6A3

collagen type VI alpha 3 chain

protein-coding gene2q37.3Gene information

What does this gene do?

The COL6A3 gene provides instructions for making one component of type VI collagen, which is a flexible protein found in the space that surrounds cells. Specifically, the protein produced from the COL6A3 gene is the alpha(α)3(VI) chain of type VI collagen. This chain combines with chains produced from other genes to produce a complete type VI collagen molecule.

Collagens are found in the extracellular matrix, which is an intricate lattice that forms in the space between cells and provides structural support. Type VI collagen is located in the extracellular matrix surrounding cells that make up the muscles used for movement (skeletal muscle cells) and cells that make up connective tissue, which provides strength and flexibility to structures throughout the body, including skin and joints. The extracellular matrix is necessary for cell stability and growth. Research suggests that type VI collagen links basement membranes, which are thin, sheet-like structures that are part of the extracellular matrix, to nearby cells.

Source: MedlinePlus, National Library of Medicine. Source publication: 2022-07-19. Source review: 2015-10.

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
collagen 6-related myopathyMONDO:0100225 · Evaluated 2024-05-16	Autosomal dominant	DefinitiveCongenital Myopathies and Myasthenic Syndromes Gene Curation Expert Panel
collagen 6-related myopathyMONDO:0100225 · Evaluated 2024-05-16	Autosomal recessive	DefinitiveCongenital Myopathies and Myasthenic Syndromes Gene Curation Expert Panel
dystonia 27MONDO:0014627 · Evaluated 2025-08-25	Autosomal recessive	LimitedCongenital Myopathies and Myasthenic Syndromes 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: 4,137
Submissions for variants in or overlapping this gene: 8,114
Submissions explicitly reporting this gene: 7,966
Alleles reported pathogenic / likely pathogenic: 226
VariationIDs with uncertain significance: 1,771
VariationIDs with conflicting classifications: 675

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 COL6A3?

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 226 alleles in COL6A3 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 COL6A3.

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

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