TY  - JOUR
N1  - The copyright of this article belongs to Wiley.
ID  - open2620
UR  - https://onlinelibrary.wiley.com/toc/10981004/0/0
A1  - McCormick, Elizabeth M.
A1  - Lott,  Marie T.
A1  - Dulik, Matthew C.
A1  - Shen, Lishuang
A1  - Attimonelli,  Marcella
A1  - Vitale, Ornella
A1  - Karaa, Amel
A1  - Bai, Renkui
A1  - Pineda-Alvarez, Daniel E
A1  - Singh, Larry N.
A1  - Stanley,  Christine M
A1  - Wong, Stacey
A1  - Bhardwaj, Anshu
A1  - Merkurjev, Daria
A1  - Mao,  Rong
A1  - Sondheimer, Neal
A1  - Zhang, Shiping
A1  - Procaccio, Vincent
A1  - Wallace, Douglas C
A1  - Gai, Xiaowu
A1  - Falk,  Marni J.
Y1  - 2020/11/10/
N2  - 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 variants and provided further specifications for additional and specific guidance related to mtDNA variant classification. These Expert Panel consensus specifications allow for consistent consideration of the unique aspects of the mtDNA genome that directly influence variant assessment, including addressing mtDNA genome composition and structure, haplogroups and phylogeny, maternal inheritance, heteroplasmy, and functional analyses unique to mtDNA, as well as specifications for utilization of mtDNA genomic databases and computational algorithms.
PB  - Wiley
JF  - Human Mutation
KW  - criteria;heteroplasmy;mitochondria;mtDNA;pathogenicity;variant interpretation
TI  - Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
ER  -