Clearer genetic results for neurofibromatosis and schwannomatosis
Neurofibromatosis and Schwannomatosis Genes Variant Curation Expert Panel (VCEP)
This project makes clear, consistent rules to interpret genetic test results for people with neurofibromatosis, Legius syndrome, and schwannomatosis.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11099925 on NIH RePORTER |
What this research studies
You can expect a team of experts to create and share standardized guidelines for interpreting DNA changes in genes linked to NF1, SPRED1, NF2, SMARCB1, and LZTR1. They will review scientific studies, clinical information, and existing database entries (such as ClinVar) to decide which variants are disease-causing, harmless, or uncertain. The panel will apply these rules to reclassify uncertain results and share the conclusions with laboratories and doctors. That should lead to more consistent genetic reports and clearer information for patients and families.
Who could benefit from this research
Good fit: People with a diagnosis or family history of NF1, NF2, schwannomatosis, or Legius syndrome, and anyone whose genetic test shows variants in NF1, NF2, SPRED1, SMARCB1, or LZTR1 are most relevant to this work.
Not a fit: People whose conditions are unrelated to these genes or who have not had genetic testing are unlikely to see direct benefit from this project.
Why it matters
Potential benefit: If successful, this could make genetic test reports more accurate and help people get earlier, clearer diagnoses and more appropriate care.
How similar studies have performed: Other ClinGen Variant Curation Expert Panels have successfully standardized interpretation for different genes, so this applies an established approach to these neurofibromatosis- and schwannomatosis-related genes.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Plotkin, Scott R — Massachusetts General Hospital
- Study coordinator: Plotkin, Scott R
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.