GENE REFERENCE / HGNC:13780

GFM1

G elongation factor mitochondrial 1

protein-coding gene3q25.32Gene information

What does this gene do?

The GFM1 gene provides instructions for making an enzyme called mitochondrial translation elongation factor G1. This enzyme is found in cell structures called mitochondria, which are the energy-producing centers within cells. While instructions for making most of the body's proteins are found in DNA that is stored in the nucleus of cells (nuclear DNA), a few proteins and other molecules are produced from DNA that is stored in mitochondria (mtDNA). Mitochondrial translation elongation factor G1 is involved in the production of proteins from mtDNA through a process called translation. The mtDNA genes provide instructions for products that are involved in protein production and the process of turning energy taken in from food into a form that cells can use (oxidative phosphorylation).

During translation, mtRNA molecules, which are the protein blueprints created from mtDNA, interact with specialized complexes called ribosomes to assemble protein building blocks (amino acids) into a fully formed protein. The role of mitochondrial translation elongation factor G1 is to coordinate the movements of mtRNA molecules with ribosomes to allow assembly of the protein to continue until it is complete.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-09.

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 2019-12-19	Autosomal recessive	ModerateMitochondrial Diseases 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: 1,108
Submissions for variants in or overlapping this gene: 1,759
Submissions explicitly reporting this gene: 1,666
Alleles reported pathogenic / likely pathogenic: 214
VariationIDs with uncertain significance: 275
VariationIDs with conflicting classifications: 49

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 GFM1?

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 214 alleles in GFM1 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 GFM1.

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

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