GENE REFERENCE / HGNC:1529

CAV3

caveolin 3

protein-coding gene3p25.3Gene information

What does this gene do?

The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane. Within the caveolae, the caveolin-3 protein acts as a scaffold to organize other molecules that are important for cell signaling and maintenance of the cell structure. These molecules include the proteins that make up sodium channels, which transport positively charged sodium atoms (sodium ions) into cells. Sodium channels play a key role in a cell's ability to generate and transmit electrical signals. In cardiac muscle, sodium channels are involved in maintaining the heart's normal rhythm. Caveolin-3 may also help regulate calcium levels in the muscle cell, which control muscle contraction and relaxation.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-11-19. Source review: 2014-05.

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
long QT syndromeMONDO:0002442 · Evaluated 2020-12-15	Autosomal dominant	LimitedLong QT syndrome Gene Curation Expert Panel
caveolinopathyMONDO:0016146 · Evaluated 2022-09-13	Autosomal dominant	DefinitiveMuscular Dystrophies and Myopathies 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: 492
Submissions for variants in or overlapping this gene: 1,165
Submissions explicitly reporting this gene: 1,096
Alleles reported pathogenic / likely pathogenic: 33
VariationIDs with uncertain significance: 191
VariationIDs with conflicting classifications: 35

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 CAV3?

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 33 alleles in CAV3 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 CAV3.

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

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