RASopathy Variant Curation Expert Panel


The ClinGen RASopathy Expert Panel aims to provide high quality, standardized curation of RASopathy gene variants.

Using the recently released ACMG standards and guidelines for the interpretations of sequence variants as our foundation, we refined classification criteria to specifically apply to BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, and SOS2 relative to their pathogenicity and mechanism, and considering their allele frequency compared to the incidence of these Noonan syndrome spectrum disorders.

The RASopathy ClinGen Expert Panel aims to systematically aid in resolution of variant classification differences in ClinVar and provide further curation of the genes involved in the RASopathies.

Expert Status - Approved Expert Panel

Step 1
Step 2
Step 3
Step 4
Define Group
Complete
Develop Classification Rules
Complete
Pilot Rules
Complete
Expert Panel Approval
Complete

Leadership

Lisa Vincent, PhD

Bruce Gelb, MD


Coordinators

Please contact a coordinator if you have questions.

Bradley Williams, MS, CGC


Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

Bradley Williams, MS, CGC


What is VARIANT CURATION?

A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.