m.4290T>C

Resolving variant against ClinVar, gnomAD and Ensembl…

Viewing single variant in MT-TI

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Uncertain Significance (VUS)

MT-TI:m.4290T>C

Nomenclaturem.4290T>CchrMT:4290|ClinVar #9605

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

0 hom · 1 het

of 56,425 genomes

MitoTIP

12.5 · Q3 possibly benign

PON-mt-tRNA

0.58 · likely pathogenic

ClinVarUncertain significance

Review: criteria provided, single submitterSubmitters: 2view ↗Last evaluated: 2019/07/12 00:00

MELAS syndrome[OMIM][MedGen][Orphanet][MONDO]

MITOMAPReported

Disease: Progressive Encephalopathy · Progressive external ophthalmoplegia (PEO),myopathyReported as: homoplasmic and heteroplasmicGenBank: 0 sequences

MITOMAP (mitomap.org), CC BY 3.0 · disease table as of 2026-10-07

Where it sits in the mitochondrial genome

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

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TGTCTGATAAAAGAGTTACTTTGATAGAGTAAATAATAGGA

C

MT-TI

m.4270–4310 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.4290 T→C.

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.

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External Resources

Franklin (Genoox)

AI-powered curation

mtDNA variant database · expect a security check

Variant interpretation · expect a security check

Gene & phenotype

mtDNA frequencies (v3.1)