Known GRIN Variants and Associated Information

Understanding GRIN Variants

Every person with GRIN-related neurodevelopmental disorder (GRIN-NDD) has a deeply personal story.

At the center of that story is a genetic variant, or change, in a GRIN gene that may affect how NMDA receptors function in that person’s brain.

As researchers, clinicians, and families advance our understanding of GRIN-NDD, more variants are being identified and studied to learn how specific variants may influence NMDA receptor function and disease symptom presentation.

This page was created to share known GRIN variants with reported functional testing outcomes.

Our goal is to make this scientific knowledge more accessible to patients, families, healthcare professionals, researchers, and the broader GRIN-NDD community while supporting continued learning and collaboration across the field.

About This Resource

The information presented here is drawn from ongoing research and variant characterization efforts conducted by scientists, clinicians, and collaborators working to advance understanding of GRIN-related disorder.

As a company, our goal is to deepen our understanding of disease biology and characterizing how individual GRIN variants affect NMDA receptor function helps contribute to our ongoing efforts to develop therapeutic approaches designed to target the underlying mechanisms of disease instead of treating the symptoms.

GRIN Therapeutics maintains this resource to help support education, awareness, and access to information across the GRIN-NDD community, and variant information is reviewed and updated periodically as new evidence becomes available.

Because research is ongoing, information associated with individual variants may change over time as additional data are generated, reviewed, and incorporated into our collective understanding of GRIN-NDD.

Known GRIN Variants - as of MONTH/DAY/YEAR

The table below contains known GRIN variants included in this resource as of the date listed above.

The Beeline Study uses Myers et al (2023) criteria as a basis for determining Gain-of-Function status, one key inclusion criteria for the study. A Beeline study site can determine patient eligibility and a list of sites can be found here:

If you do not find the variant you are looking for, it may not yet have been reported, reviewed, or added to this resource. However, GRIN Therapeutics partner InformedDNA can help a family understand their variant, functional status, and answer any questions about ongoing research in GRIN NDD.

Gene Variant
(Protein Change)		 Functional Assessment Outcome
GRIN 1 XXXXX Gain of Function
XXXXX XXXXX XXXXX
XXXXX XXXXX XXXXX

Example Key:

*Emory
**SB Discovery

Important Information for Patients and Families

Genetic information can be complex, and scientific understanding continues to evolve over time. As you explore this resource, there are a few important things to keep in mind:

  • Patient privacy is critical to us. This resource is designed to share scientific information about genetic variants, not information about individual patients. Personal identities and health information are protected and are not disclosed through this resource.
  • Not all GRIN variants have been fully studied or characterized.
  • The presence of a variant in this resource does not, by itself, confirm a diagnosis or determine how a condition may affect an individual.
  • Information associated with a variant may change as new research becomes available.
  • The information provided on this page is intended for educational and informational purposes only and should not be considered professional medical advice.
  • Genetic test results should always be discussed with qualified healthcare professionals, including genetic counselors and treating physicians, who can help interpret findings within the context of an individual’s medical history and clinical presentation.

Do you have questions about a genetic test result?

Patients and families with questions about a genetic testing result should speak with their healthcare provider or genetic counselor. These professionals can help explain what a specific variant may mean in the context of an individual’s health, symptoms, and medical history.

Healthcare professionals seeking additional information about GRIN-related neurodevelopmental disorder are encouraged to consult the scientific literature and other appropriate clinical resources as part of their evaluation and decision-making process.

If you or someone you care for have a GRIN variant and do not see a reported functional outcome in this list, you may reach out to our partner InformedDNA to discuss functional characterization.