Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
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DOI: 10.1002/humu.24107
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… read more here.
Keywords: interpretation; dna; mtdna variant; standards guidelines ... See more keywords
The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2020.116950
Abstract: We read with interest the article by Ghosh and colleagues describing an adolescent male who presented with primary hypoparathyroidism and extensive neurological involvement [2]; the authors conclude that the mitochondrial DNA (mtDNA; NC_012920.1) variant, m.15043G>A… read more here.
Keywords: mtdna variant; 15043g cyb; variant 15043g; variant ... See more keywords
A meta-analysis and a functional study support the influence of mtDNA variant m.16519C on the risk of rapid progression of knee osteoarthritis
Sign Up to like & getrecommendations! Published in 2023 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/ard-2022-223570
Abstract: Objectives To identify mitochondrial DNA (mtDNA) genetic variants associated with the risk of rapid progression of knee osteoarthritis (OA) and to characterise their functional significance using a cellular model of transmitochondrial cybrids. Methods Three prospective… read more here.
Keywords: risk rapid; mtdna variant; mtdna; knee ... See more keywords