# Gene Variant Curation Core (GVCC)

> **NIH NIH U54** · UNIVERSITY OF MICHIGAN AT ANN ARBOR · 2020 · $179,512

## Abstract

PROJECT SUMMARY/ABSTRACT
The Gene and Variant Curation Core (GVCC) is a multi-institutional core that will be the central hub for
decision making for the genes and variants for study by the Epilepsy Multiplatform Variant Prediction (EpiMVP)
projects in this Center Without Walls (CWOW). The core will integrate genetic sequence data from population
and patient cohorts, as well as the functional readouts from the EpiMVP projects to develop EpiPred. EpiPred
will be an epilepsy-specific computational model that will predict the likelihood of a variant being pathogenic or
benign. The core capitalizes on the broad and multifaceted expertise of investigators at five major universities
including Northwestern University, Weill Cornell Medical College, University of Michigan, University of
California San Francisco and University of Washington. The broad objective of the core is to firstly curate and
select genes and variants for study in projects 1-3 of the EpiMVP. This data will be collated from large
population databases and patient datasets from our industry partners in the clinical genetic testing industry as
well as ClinVar and large consortia sequencing projects. Secondly the GVCC will use prediction tools, protein
structural modeling and functional data from projects 1-3 to create and optimize EpiPred, an epilepsy-specific
computational model that will predict the likelihood of a variant being pathogenic or benign. Finally, the GVCC
will support data management and web-based resources needed for seamless data sharing and
implementation of EpiPred in the epilepsy community. The GVCC will work with ClinGen curators and our
industry partners to test EpiPred accuracy on variants that are curated independently by the Epilepsy Working
Group, allowing refinement of both the algorithm and the criteria used by ClinGen for curation. Eventually, we
aim to incorporate the EpiMVP prediction algorithms into ClinGen curation practices, and ultimately the ACMG
criteria as well. Moreover, to expand the accessibility of EpiPred for patients, families, healthcare providers and
researchers we will establish a web-based version of EpiPred.

## Key facts

- **NIH application ID:** 10003684
- **Project number:** 1U54NS117170-01
- **Recipient organization:** UNIVERSITY OF MICHIGAN AT ANN ARBOR
- **Principal Investigator:** Gemma Louise Carvill
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $179,512
- **Award type:** 1
- **Project period:** 2020-09-15 → 2025-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10003684

## Citation

> US National Institutes of Health, RePORTER application 10003684, Gene Variant Curation Core (GVCC) (1U54NS117170-01). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10003684. Licensed CC0.

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