Clinical Domain Working Groups

In the first project period, we focused on expert curation of variant pathogenicity in the most prevalent and/or actionable causes of Leigh syndrome, Leigh-like syndrome, and pediatric-onset mitochondrial encephalopathy syndromes in both nuclear and mitochondrial DNA, and facilitated by utilization of the Mitochondrial Disease Sequence Data Resource, MSeqDR. We now focus on curating mitochondrial DNA variants as they relate to primary mitochondrial disease (PMD). 

ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines

The specification document linked below contains two sets of ACMG/AMP specifications from the ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel: 

ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_ntDNA

• Scope: SLC19A3, PDHA1, POLG, ETHE1 

ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA

• Scope: Mitochondrial DNA (mtDNA) Genes