Clinical Domain Working Groups

Cardiomyopathy Variant Curation Expert Panel

Membership Documents

Scope of Work


  1. Adapt ACMG classification criteria for genes associated with inherited cardiomyopathy
    1. Phase 1: MYH7 for HCM, DCM, RCM and LVNC.
    2. Phase 2: Evaluate applicability of the rules developed for MYH7 for all other HCM genes (see list below) and adapt further if need be. The expectation is that most rules developed for MYH7 will apply without further modification to these genes.
    • Note: Using the work of the hypertrophic cardiomyopathy gene curation expert panel (HCM GCEP), genes having definitive evidence for association with disease will be included.  
       
  2. Use modified rules to classify ALL variants in the public domain (ClinGen, HGMD, Locus Specific Databases).
    1. Phase 1: MYH7
    2. Phases 2 likely to follow the sequence above. 

Gene

Classification

Review date

MYBPC3

definitive

9/5/17

TNNT2

definitive

11/7/17

TPM1

definitive

12/20/16

MYL2

definitive

2/7/17

MYL3

definitive

10/4/16

TNNI3

definitive

1/31/17

ACTC1

definitive

10/23/17

MYH7

definitive

 


Development of modified ACMG/AMP framework for MYH7


The adaptation of the ACMG/AMP rules for MYH7 was carried out in three stages including (1) a systematic review of all rules and the development of proposed adjustments by the core task team and approved by the CMP-EP, (2) testing of the proposed draft rules using a representative set of 60 MYH7 variants and (3) refining rule adjustments as needed based on scenarios encountered during the testing phase. See Kelly et al. (PMID: 29300372) for further details.

 

Expert Panel Status

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

Coordinators
Please contact a coordinator if you have questions.

Documents

Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.