MT-TS2
Chr MTtRNA-Ser
Also known as: MTTS2
46
ClinVar variants
20
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— MT-TS2
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Gene-Disease Validity (ClinGen)
mitochondrial disease · MTDefinitive
Definitive — sufficient evidence for diagnostic panels
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic· 13 VUS of 46 total submissions
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
46 submitted variants in ClinVar
Classification Summary
Pathogenic17
Likely Pathogenic3
VUS13
Likely Benign2
Benign10
Conflicting1
17
Pathogenic
3
Likely Pathogenic
13
VUS
2
Likely Benign
10
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 | — | — | — | — | 17 |
Likely Pathogenic | — | — | — | — | 3 |
VUS | — | — | — | — | 13 |
Likely Benign | — | — | — | — | 2 |
Benign | — | — | — | — | 10 |
Conflicting | — | 1 | |||
| Total | — | 46 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MT-TS2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
TRANSFER RNA, MITOCHONDRIAL, SERINE, 2; MTTS2
MIM #590085 · *
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)
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Open GeneReview ↗GeneReview available — MT-TS2
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
A novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.
Zhuang X et al.·Neurol Sci
2026Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.
Suzuki-Ajihara S et al.·Mol Genet Metab Rep
2023🔓 Open Access
Top 5 resultsSearch Europe PMC ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)