MT-TV

Chr MT

tRNA-Val

Also known as: MTTV

NCBI Gene: 4577 ENSG00000210077 OMIM: 590105

This gene encodes mitochondrial tRNA-Valine, which is essential for protein synthesis within mitochondria and proper oxidative phosphorylation function. Mutations cause Leigh syndrome, MELAS-like syndrome, and hypertrophic cardiomyopathy through maternal inheritance. Clinical severity depends on the degree of heteroplasmy in affected tissues.

GeneReviews OMIM ResearchSummary from Curated mito context

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

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GeneReview available — MT-TV

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Nuclear-gene analyses omitted

MT-TV is a mitochondrial tRNA gene. gnomAD constraint, carrier burden and exome coverage, the ClinVar type breakdown, the protein lollipop, AlphaFold and transcript-architecture views are built for nuclear genes and are not shown. Population data for mtDNA variants (gnomAD v3.1, homoplasmy and heteroplasmy) is on each variant page.

Where it sits in the mitochondrial genome

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proteinrRNAtRNAouter ring H-strand · inner L-strandMITOMAP confirmedreported (as of 2026-10-07)

37 genes from Ensembl (rCRS numbering, matched to MITOMAP’s Gene Loci); landmarks and disease alleles from MITOMAP (CC BY 3.0). Circular layout after MitoWheel.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

MITOMAP Disease Variants — MT-TV

Live table ↗

Variant	Disease	Status	GenBank seqs
m.1606G>A	AMDF / retinal degeneration	Uncertain significance · confirmed	0
m.1607T>C	Suspected mito disease	Reported	13
m.1608G>A	Leigh Sydrome / Parkinsonism with dystonia	Reported	1
m.1612C>T	LVNC (left ventricular noncompaction)	Reported	0
m.1616A>G	MELAS	Reported	0
m.1624C>T	Leigh Syndrome	Likely pathogenic · confirmed	0
m.1630A>G	MNGIE-like disease / MELAS / epilepsy	Uncertain significance · confirmed	0
m.1636A>G	Global developmental delay, CMT disease, progressive myoclonic epilepsy, paroxysmal arrhythmia, and brain atrophy	Reported	1
m.1640A>G	MELAS	Reported	3
m.1642G>A	MELAS	Reported	0
m.1643A>G	Late infantile onset fatal mito disease	Reported	2
m.1644G>T	Adult Leigh Syndrome	Reported	0
m.1644G>A	Leigh Syndrome / HCM / MELAS	Likely pathogenic · confirmed	0
m.1659T>C	Movement Disorder	Uncertain significance · reported	0
m.1661A>G	Charcot Marie Tooth (CMT)	Uncertain significance · reported	1