GENE REFERENCE / HGNC:4598

GRM6

glutamate metabotropic receptor 6

protein-coding gene5q35.3Gene information

What does this gene do?

The GRM6 gene provides instructions for making a protein called metabotropic glutamate receptor 6 (mGluR6). This protein is a glutamate receptor, which is a type of protein that attaches (binds) to the signaling molecule glutamate on the surface of cells. The mGluR6 protein is found within the membrane that surrounds cells called bipolar cells, which are part of the light-sensitive tissue at the back of the eye (retina). Bipolar cells receive visual signals from cells called rods that are used to see in low light. Rod cells release glutamate, which then binds to mGluR6 on bipolar cells. This binding ultimately triggers bipolar cells to transmit the visual signals to other retinal cells and eventually to the brain.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-11. Source review: 2014-01.

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
GRM6-related retinopathyMONDO:0800397 · Evaluated 2022-09-01	Autosomal recessive	DefinitiveRetina 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: 1,041
Submissions for variants in or overlapping this gene: 1,689
Submissions explicitly reporting this gene: 1,571
Alleles reported pathogenic / likely pathogenic: 76
VariationIDs with uncertain significance: 502
VariationIDs with conflicting classifications: 40

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 GRM6?

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 76 alleles in GRM6 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 GRM6.

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

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