Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type): genes and variants
Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) is linked to 1 analyzed protein (OPA1). 2 DNA variants are known to cause it; 2 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
OPA1: Dynamin-like GTPase OPA1, mitochondrial
A mitochondrial dynamin-related GTPase that fuses inner mitochondrial membranes and shapes cristae. By maintaining mitochondrial architecture and respiratory-chain function, it supports cell energy production, and OPA1 variants cause inherited optic-atrophy syndromes.
2 disease-causing and 2 uncertain variants in OPA1 are linked to Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type).
Known disease-causing variants in Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| OPA1 K204R | 204 | Mitochondrial intermembrane | Disease-causing (★★) |
| OPA1 L534R | 534 | Dynamin-type G | Disease-causing |
Same protein, different disease
- Autosomal dominant optic atrophy classic form is also caused by OPA1 variants; they fall mostly in different places as the Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) variants (13 disease-causing).
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy is also caused by OPA1 variants; they fall mostly in different places as the Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) variants (10 disease-causing).
- Optic atrophy is also caused by OPA1 variants; they fall mostly in different places as the Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) variants (7 disease-causing).
Diseases related to Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
- Auditory neuropathy, also linked to OPA1
- Autosomal dominant optic atrophy classic form, also linked to OPA1
- Optic atrophy, also linked to OPA1
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy, also linked to OPA1
Frequently asked questions
Which genes are linked to Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)?
In CATVariant, Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) is linked to 1 analyzed protein: OPA1 (Dynamin-like GTPase OPA1, mitochondrial).
How many genetic variants are linked to Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)?
5 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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