Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

ABSTRACT: Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations given unique features of the mtDNA genome, including maternal inheritance, variant heteroplasmy, threshold effect, absence of splicing, and contextual effects of haplogroups. Currently, there are insufficient standardized criteria for mtDNA variant assessment, which leads to inconsistencies in clinical variant pathogenicity reporting. An international working group of mtDNA experts was assembled within the Mitochondrial Disease Sequence Data Resource Consortium and obtained Expert Panel status from ClinGen. This group reviewed the 2015 American College of Medical Genetics and Association of Molecular Pathology standards and guidelines that are widely used for clinical interpretation of DNA sequence va

SUBMITTER: McCormick EM 

PROVIDER: S-EPMC7717623 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature