GENE REFERENCE / HGNC:8140

OPA1

OPA1 mitochondrial dynamin like GTPase

protein-coding gene3q29Gene information

What does this gene do?

The OPA1 gene provides instructions for making a protein that is found in cells and tissues throughout the body. The OPA1 protein is active in the inner membrane of cell structures called mitochondria, which are the energy-producing centers in cells. Mitochondria are dynamic structures that change shape through processes called fission (splitting into smaller pieces) and fusion (combining pieces). Changes in shape are necessary for mitochondrial function and the production of new mitochondria. The OPA1 protein helps to regulate the shape of mitochondria by playing a key role in the fusion process.

The OPA1 protein is also involved in a process that takes place in mitochondria called oxidative phosphorylation, from which cells derive much of their energy. Additionally, the OPA1 protein plays a role in the maintenance of the DNA within mitochondria, called mitochondrial DNA (mtDNA), and in controlled cell death (apoptosis).

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-05-08. Source review: 2017-08.

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
Leigh syndromeMONDO:0009723 · Evaluated 2021-06-14	Autosomal recessive	ModerateMitochondrial Diseases Gene Curation Expert Panel
OPA1-related optic atrophy with or without extraocular featuresMONDO:0800181 · Evaluated 2022-11-17	Semidominant	DefinitiveGlaucoma and Neuro-Ophthalmology 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: 2,019
Submissions for variants in or overlapping this gene: 3,445
Submissions explicitly reporting this gene: 3,255
Alleles reported pathogenic / likely pathogenic: 465
VariationIDs with uncertain significance: 716
VariationIDs with conflicting classifications: 134

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 OPA1?

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 465 alleles in OPA1 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 OPA1.

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

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