Viewing single variant in MT-ND4

Uncertain Significance (VUS)Not in ClinVar or MITOMAP — mtDNA classification needs case-level review

MT-ND4:m.12058A>C (p.Glu433Asp)

Tutor Research

Nomenclaturem.12058A>Cp.Glu433AspchrMT:12058|Not in ClinVar

TypeMissense

InheritanceMitochondrial

gnomAD mtDNA

Absent

~56k genomes

SIFT

deleterious_low_confidence (0)

PolyPhen

probably_damaging (0.954)

ESM1b

-8.71

Tutor Research

MITOMAPReported

Live entry

Disease: Multisystemic disorder with sensorineural hearing loss (SNHL) and neurodevelopmental delayReported as: heteroplasmicGenBank: 0 sequences

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

Where it sits in the mitochondrial genome

Tap or hover a gene, landmark or tick; genes open their page, ticks their variant.

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

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AAACCCTCATTCACACGAGAAAACACCCTCATGTTCATACA

MT-ND4

m.12038–12078 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.12058 A→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.

Open Research Assistant for MT-ND4 →

External Resources

Franklin (Genoox)

AI-powered curation

MITOMAP

mtDNA variant database · expect a security check

VarSome

Variant interpretation · expect a security check

OMIM

Gene & phenotype

gnomAD

mtDNA frequencies (v3.1)

UCSC Browser

Genome browser

m.12058A>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-ND4:m.12058A>C (p.Glu433Asp)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-ND4:m.12058A>C (p.Glu433Asp)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources