Article
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Human mutation - 1 Dec 2020
McCormick Elizabeth M, Lott Marie T, Dulik Matthew C, Shen Lishuang, Attimonelli Marcella, Vitale Ornella, Karaa Amel, Bai Renkui, Pineda-Alvarez Daniel E, Singh Larry N, Stanley Christine M, Wong Stacey, Bhardwaj Anshu, Merkurjev Daria, Mao Rong, Sondheimer Neal, Zhang Shiping, Procaccio Vincent, Wallace Douglas C, Gai Xiaowu, Falk Marni J
Abstract excerpt
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...
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