ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Interpretation of mitochondrial tRNA variants.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed.
- Successful live birth after preimplantation genetic testing for combined nuclear RNASEH2C and mitochondrial MT-TL1 variants.Journal of assisted reproduction and genetics · 2026Article
- Expanding the landscape of tRNA pathogenic variants in mitochondrial DNA.Brain communications · 2026Article
- The m.3290T > C variant might be a protective factor against the pathogenic m.3243 A > G variant: a case study.Orphanet journal of rare diseases · 2025Article
- A Novel m.1636A > G Variant in Mitochondrial TV Gene Might Cause New Phenotype of Mitochondrial Disease in a 2-Year Old Chinese Boy.Molecular neurobiology · 2025Article
- Assessment of the respiratory chain enzyme activity in peripheral blood monocytes for the noninvasive diagnostics of mitochondrial disease.World journal of pediatrics : WJP · 2025Article
- Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.Molecular genetics and metabolism · 2025Article
- Analysis of mutations in mitochondrial transfer RNA genes and the maternal inheritance of polycystic ovary syndrome.Frontiers in endocrinology · 2025Article
- Dilated Cardiomyopathy May Be Associated With a Novel Mitochondrial tRNAHuman mutation · 2025Article
- Article
- A novel m.5906G > a variant in MT-CO1 causes MELAS/Leigh overlap syndrome.Molecular genetics and genomics : MGG · 2024Article
- Unconstrained Precision Mitochondrial Genome Editing with αDdCBEs.Human gene therapy · 2024Article
- A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAJournal of human genetics · 2024Article
- Article
- Maternally Inherited Essential Hypertension May Be Associated with the Mutations in Mitochondrial tRNAPharmacogenomics and personalized medicine · 2024Article
- Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss.Journal of Korean medical science · 2023Article
- Whole mitogenome sequencing uncovers a relation between mitochondrial heteroplasmy and leprosy severity.Human genomics · 2023Article
- Research Advances on Deafness Genes Associated with Mitochondrial tRNA-37 Modifications.The journal of international advanced otology · 2023Review
- Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families.Neurogenetics · 2023Article
- Characterization of Mitochondrial DNA Methylation of Alzheimer's Disease in Plasma Cell-Free DNA.Diagnostics (Basel, Switzerland) · 2023Article
- Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.Scientific reports · 2023Article
Corrections and comments
- Erratum issued
- Erratum issued
Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo develop criteria to interpret mitochondrial transfer RNA (mt-tRNA) variants based on unique characteristics of mitochondrial genetics and conserved structural/functional properties of tRNA.
methodsWe developed rules on a set of established pathogenic/benign variants by examining heteroplasmy correlations with phenotype, tissue distribution, family members, and among unrelated families from published literature. We validated these deduced rules using our new cases and applied them to classify novel variants.
resultsEvaluation of previously reported pathogenic variants found that 80.6% had sufficient evidence to support phenotypic correlation with heteroplasmy levels among and within families. The remaining variants were downgraded due to the lack of similar evidence. Application of the verified criteria resulted in rescoring 80.8% of reported variants of uncertain significance (VUS) to benign and likely benign. Among 97 novel variants, none met pathogenic criteria. A large proportion of novel variants (84.5%) remained as VUS, while only 10.3% were likely pathogenic. Detection of these novel variants in additional individuals would facilitate their classification.
conclusionProper interpretation of mt-tRNA variants is crucial for accurate clinical diagnosis and genetic counseling. Correlations with tissue distribution, heteroplasmy levels, predicted perturbations to tRNA structure, and phenotypes provide important evidence for determining the clinical significance of mt-tRNA variants.
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