m.1636A>G

Resolving variant against ClinVar, gnomAD and Ensembl…

Viewing single variant in MT-TV

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Uncertain Significance (VUS)

MT-TV:m.1636A>G

Nomenclaturem.1636A>GchrMT:1636|ClinVar #689842

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

0 hom · 1 het

of 56,433 genomes

MitoTIP

9.8 · Q3 possibly benign

PON-mt-tRNA

0.57 · likely pathogenic

ClinVarUncertain significance

Review: criteria provided, single submitterSubmitters: 1view ↗Last evaluated: 2019/07/12 00:00

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

MITOMAPReported

Disease: Global developmental delay, CMT disease, progressive myoclonic epilepsy, paroxysmal arrhythmia, and brain atrophyReported as: heteroplasmicGenBank: 1 sequence

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)

||||

ACACAAAGCACCCAACTTACACTTAGGAGATTTCAACTTAA

G

MT-TV

m.1616–1656 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.1636 A→G.

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)