RUNX1 VUS HELP

**Support for Patients with RUNX1 Variants of Unknown Significance (VUS)**

If you or a family member has a RUNX1 genetic variant, especially one called a "Variant of Uncertain Significance (VUS)," it means scientists don’t yet know enough to determine whether the variant is harmless or could affect your health. We completely understand that this uncertainty can be frustrating, leaving you unsure about what it means or how to proceed.

However, there are steps you can take to help clarify things over time, and we're here to assist. A program called ConnectMyVariant can also help (more information below).

Understanding Variants: What Is a VUS?

RUNX1 is a gene that helps control blood cell development. When there’s a change (or variant) in the gene, it may or may not have an effect on health.

To determine whether a variant is harmful, scientists follow a classification system created by the ClinGen Myeloid Malignancy Variant Curation Expert Panel (MMVCEP). This expert panel includes researchers and clinicians from around the world who review genetic data using strict guidelines.

Each variant is placed into one of five categories:

  
      Classification
      What It Means
    
      Pathogenic
      The variant is known to cause disease
    
      Likely Pathogenic
      Strong evidence suggests the variant causes disease
    
      Variant of Uncertain Significance (VUS)
      It’s unclear if the variant causes disease or is harmless
    
      Likely Benign
      Likely does not cause disease
    
      Benign
      The variant does not cause disease

What Is ConnectMyVariant?

ConnectMyVariant supports individuals with germline RUNX1 genetic variants that are classified as VUS. The program helps:

Connect you with others who share your variant, which can provide emotional support and helpful information.
Guide you in talking with family members who may also be at risk.
Support research to better understand your variant. By finding others with the same one, researchers can collect enough data to reclassify it as likely benign or more clearly understand if it contributes to disease.

Participation is completely voluntary and entirely free.

How ConnectMyVariant Can Help

ConnectMyVariant offers tools and support to help individuals with RUNX1 variants, especially those with a VUS, connect with others who share the same variant. These connections can help researchers gather enough evidence to better understand what your variant means.

The program also provides:

One-on-one support from Family Outreach Navigators
Guidance on how to reach out to relatives who may also want testing
The possibility to participate in research that helps reclassify uncertain variants

By participating, you’re not only helping yourself — you may also help your family, and others with the same variant, get answers too.

How to Get Started

If you’re ready to explore whether others in your family or the broader RUNX1 community may share your variant, we encourage you to click the button below and sign up with ConnectMyVariant. It’s quick, free, and can make a real difference.

CLICK HERE

Have Questions?

If you’d like to talk more before signing up or want help getting started, please contact:

Amanda Eggen, PhD
Director of Patient Engagement and Clinical Programs
aeggen@runx1-fpd.org

Classification	What It Means
Pathogenic	The variant is known to cause disease
Likely Pathogenic	Strong evidence suggests the variant causes disease
Variant of Uncertain Significance (VUS)	It’s unclear if the variant causes disease or is harmless
Likely Benign	Likely does not cause disease
Benign	The variant does not cause disease