GENE REFERENCE / HGNC:15710

LDB3

LIM domain binding 3

protein-coding gene10q23.2Gene information

What does this gene do?

The LDB3 gene provides instructions for making a protein that is found in heart (cardiac) muscle and in the muscles used for movement (skeletal muscle). Within muscle fibers, structures called sarcomeres generate the force needed for muscles to contract. Sarcomeres are linked together by structures called Z-discs to form myofibrils, which are the basic units of muscle fibers. The LDB3 protein helps to stabilize the sarcomeres by interacting with Z-discs. This organization of the sarcomeres and myofibrils provides the strength and stability that is needed during repeated cycles of muscle contraction and relaxation.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-09-30. Source review: 2025-11.

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
hypertrophic cardiomyopathyMONDO:0005045 · Evaluated 2026-01-27	Autosomal dominant	DisputedHereditary Cardiovascular Disease Gene Curation Expert Panel
dilated cardiomyopathy 1CMONDO:0011094 · Evaluated 2026-03-04	Autosomal dominant	LimitedDilated Cardiomyopathy Gene Curation Expert Panel
arrhythmogenic right ventricular cardiomyopathyMONDO:0016587 · Evaluated 2019-09-12	Autosomal dominant	DisputedArrhythmogenic Right Ventricular Cardiomyopathy Gene Curation Expert Panel
cardiomyopathy, dilated, 2lMONDO:0979236 · Evaluated 2026-03-04	Autosomal recessive	StrongDilated Cardiomyopathy 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: 1,707
Submissions for variants in or overlapping this gene: 3,733
Submissions explicitly reporting this gene: 3,643
Alleles reported pathogenic / likely pathogenic: 41
VariationIDs with uncertain significance: 897
VariationIDs with conflicting classifications: 165

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 LDB3?

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 41 alleles in LDB3 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 LDB3.

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

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