MT-TL1

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

Basic information

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	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

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