MT-TL2
Chr MTtRNA-Leu
Also known as: MTTL2
Clinical Summary— MT-TL2
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Gene-Disease Validity (ClinGen)
mitochondrial disease · MTDefinitive
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
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ClinVar Variants
20 Pathogenic / Likely Pathogenic· 12 VUS of 44 total submissions
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Open GeneReview ↗GeneReview available — MT-TL2
Authoritative clinical overview · Recommended first read
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
44 submitted variants in ClinVar
Classification Summary
Pathogenic16
Likely Pathogenic4
VUS12
Likely Benign2
Benign9
Conflicting1
16
Pathogenic
4
Likely Pathogenic
12
VUS
2
Likely Benign
9
Benign
1
Conflicting
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 16 |
Likely Pathogenic | — | — | — | — | 4 |
VUS | — | — | — | — | 12 |
Likely Benign | — | — | — | — | 2 |
Benign | — | — | — | — | 9 |
Conflicting | — | 1 | |||
| Total | — | 44 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →MT-TL2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
📖
Open GeneReview ↗GeneReview available — MT-TL2
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
Bibi S et al.·Front Endocrinol (Lausanne)
2023
Case report: Clinical profile, molecular genetics, and neuroimaging findings presenting in a patient with Kearns-Sayre syndrome associated with inherited thrombophilia
Gogu AE et al.·Front Neurol
2024Case report
Biomechanics of clear aligner therapy: Assessing the influence of tooth position and flat trimline height in translational movements
Traversa F et al.·Orthod Craniofac Res
2024
Optical Properties, Microstructure, and Phase Fraction of Multi-Layered Monolithic Zirconia with and without Yttria-Gradient
Cho MH et al.·Materials (Basel)
2022
A novel role for vaping in mitochondrial gene dysregulation and inflammation fundamental to disease development
Tommasi S et al.·Sci Rep
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.
Snyder MT et al.·Am J Med Genet A
2024Case report
Screening for Rare Mitochondrial Genome Variants Reveals a Potentially Novel Association between MT-CO1 and MT-TL2 Genes and Diabetes Phenotype.
Płoszaj T et al.·Int J Mol Sci
2024
Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report.
Soldath P et al.·BMC Musculoskelet Disord
2017Case report
Mitochondrial DNA haplogroup analysis in Saudi Arab patients with multiple sclerosis.
Al-Kafaji G et al.·PLoS One
2022Cohort
Analysis of mutations in mitochondrial transfer RNA genes and the maternal inheritance of polycystic ovary syndrome.
Nawaz T et al.·Front Endocrinol (Lausanne)
2025
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1.
O'Donnell L et al.·J Neuromuscul Dis
2020
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools