Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and laboratory interpretation of mitochondrial mRNA variants.

Human mutation - 1 Oct 2020

Wong Lee-Jun C, Chen Ting, Schmitt Eric S, Wang Jing, Tang Sha, Landsverk Megan, Li Fangyuan, Zhang Shulin, Wang Yue, Zhang Victor W, Craigen William J

Abstract excerpt

Interpretation of mitochondrial protein-encoding (mt-mRNA) variants has been challenging due to mitochondrial characteristics that have not been addressed by American College of Medical Genetics and Genomics guidelines. We developed criteria for the interpretation of mt-mRNA variants via literature review of reported variants, tested and refined these criteria by using our new cases, followed by interpreting 421...

Topics

Genetic Counseling
Genetic Predisposition to Disease
Genomics
Humans
Mutation
RNA, Messenger
United States

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32652755
DOI: 10.1002/humu.24082

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and laboratory interpretation of mitochondrial mRNA variants.PMID 32652755Read ↗

Interpretation of mitochondrial tRNA variants.Semantic proximity Read ↗

Challenging mtDNA tRNA variant guidelines: Emphasizing single-cell analysis through four novel variants.Semantic proximity Read ↗

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.Semantic proximity Read ↗

Pathogenic mitochondrial DNA mutations in protein-coding genes.Semantic proximity Read ↗

Challenging mtDNA tRNA Variant Guidelines: Emphasizing Single-Cell Analysis through Four Novel VariantsSemantic proximity Read ↗

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Semantic proximity Read ↗

Mitochondrial DNA variants in normal skins: Insights into prevalent pathogenic variants and quality control surveillance.Semantic proximity Read ↗

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.Semantic proximity Read ↗

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.Semantic proximity Read ↗

Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseasesSemantic proximity Read ↗

Variant interpretation in molecular autopsy: a useful dilemmaSemantic proximity Read ↗

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.