MT-TL1

mitochondrially encoded tRNA-Leu (UUA/G) 1, the group of Mitochondrially encoded transfer RNAs

Basic information

Region (hg38): M:3230-3304

Previous symbols: [ "MTTL1" ]

Links

ENSG00000209082 ∙ NCBI:4567 ∙ OMIM:590050 ∙ HGNC:7490 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• maternally-inherited diabetes and deafness (Strong), mode of inheritance: Mitochondrial
• mitochondrial disease (Definitive), mode of inheritance: Mitochondrial
• Leigh syndrome (Limited), mode of inheritance: Mitochondrial

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Brain pseudoatrophy, reversible, valproate-induced, susceptibility to	Maternal	General; Pharmacogenomic	In Brain pseudoatrophy, reversible, valproate-induced, susceptibility to, variants may have pharmacogenomic importance, as medication selection would be impacted in individuals with variants	Audiologic/Otolaryngologic; Biochemical; Cardiovascular; Musculoskeletal; Neurologic; Ophthalmologic; Renal	10356136; 1514779; 1360090; 8254046; 9243242; 9506761; 10482110; 10519336; 10699170; 11708999; 12905015; 15466014; 16326995; 16476929; 17101920
Mitochondrial variants may involve a variety of sequelae, including hearing impairment; As with other forms of epilepsy, optimal seizure control is advantageous, and genetic diagnosis may aid with medication selection

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MT-TL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MT-TL1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in MT-TL1

This is a list of pathogenic ClinVar variants found in the MT-TL1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
M-3236-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-3242-G-A		Myelodysplastic syndrome • MELAS syndrome	Pathogenic/Likely pathogenic (May 04, 2022)
M-3243-A-G		Cyclical vomiting syndrome • 3-methylglutaconic aciduria type 1 • Age related macular degeneration 2 • Mitochondrial complex IV deficiency, nuclear type 1 • MELAS syndrome • MERRF/MELAS overlap syndrome • Diabetes-deafness syndrome maternally transmitted • Sensorineural hearing loss disorder;Stroke disorder;Glucose intolerance;Short stature • Leigh syndrome • not specified • See cases • Cerebral palsy • Mitochondrial disease • Maternally-inherited mitochondrial myopathy • MELAS syndrome;MERRF syndrome • Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 • Hypertrophic cardiomyopathy;MELAS syndrome;Diabetes-deafness syndrome maternally transmitted;Leigh Syndrome (mtDNA mutation) • Auditory neuropathy spectrum disorder • Leigh syndrome, mitochondrial	Pathogenic/Likely pathogenic (Jul 03, 2024)
M-3243-A-T		MELAS syndrome • Mitochondrial disease	Likely pathogenic (Oct 10, 2022)
M-3244-G-A		not specified	Uncertain significance (May 04, 2022)
M-3248-G-A		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-3249-G-A		Kearns-Sayre syndrome • Mitochondrial disease	Uncertain significance (Apr 22, 2024)
M-3250-T-C		Mitochondrial skeletal myopathy, responsive to riboflavin • MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-3251-A-G		Progressive external ophthalmoplegia, proximal myopathy, and sudden death • Mitochondrial disease • MELAS syndrome	Likely pathogenic (Apr 22, 2024)
M-3252-A-G		Mitochondrial encephalomyopathy • MELAS syndrome	Likely pathogenic (Jul 12, 2019)
M-3252-A-T		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-3254-C-A		MELAS syndrome	Benign (Jul 12, 2019)
M-3254-C-T		MELAS syndrome	Likely benign (Jul 12, 2019)
M-3255-G-A		MELAS syndrome • Mitochondrial disease	Likely pathogenic (Apr 22, 2024)
M-3256-C-T		MERRF syndrome • Diabetes mellitus, noninsulin-dependent, maternally transmitted • MELAS syndrome • Mitochondrial disease	Likely pathogenic (Aug 08, 2022)
M-3258-T-C		Mitochondrial disease	Likely pathogenic (Aug 08, 2022)
M-3260-A-G		Mitochondrial disease • MELAS syndrome • MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY	Likely pathogenic (May 22, 2023)
M-3261-A-G		MELAS syndrome	Likely benign (Jul 12, 2019)
M-3263-C-T		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-3264-T-C		not specified	Uncertain significance (May 04, 2022)
M-3269-A-G		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-3270-CT-C		Mitochondrial disease	Uncertain significance (May 23, 2023)
M-3271-T-C		MELAS syndrome • MELAS syndrome;MERRF syndrome • not specified • Mitochondrial disease	Pathogenic (Apr 25, 2023)
M-3272-T-C		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-3274-A-G		Neuropsychiatric disorder and early-onset cataract • MERRF syndrome • MELAS syndrome • Mitochondrial disease	Uncertain significance (Apr 23, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Aminoacyl-tRNA biosynthesis - Homo sapiens (human);Primary Focal Segmental Glomerulosclerosis FSGS (Consensus)

Mouse Genome Informatics

• Gene name: mt-Tl1