Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type): genes and variants
Explore variant evidence for Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) across 1 analyzed protein (OPA1). Linked ClinVar records include 2 pathogenic or likely pathogenic variants, 1 variants of uncertain significance and 1 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Mitochondrial DNA depletion syndrome 14 (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 ClinVar pathogenic / likely pathogenic and 2 uncertain variants in OPA1 have source records linked to Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type). Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| OPA1 K204R | 204 | Mitochondrial intermembrane | Pathogenic / likely pathogenic (★★) |
| OPA1 L534R | 534 | Dynamin-type G | Pathogenic / likely pathogenic |
Same protein, different disease
- Autosomal dominant optic atrophy, classic type also has ClinVar records linked to OPA1 variants; they fall mostly in different places as the Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) variants (13 pathogenic / likely pathogenic).
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy also has ClinVar records linked to OPA1 variants; they fall mostly in different places as the Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) variants (10 pathogenic / likely pathogenic).
- Optic atrophy also has ClinVar records linked to OPA1 variants; they fall mostly in different places as the Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) variants (7 pathogenic / likely pathogenic).
Diseases related to Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
- Auditory neuropathy, also linked to OPA1
- Autosomal dominant optic atrophy, classic type, 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 have records linked to Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)?
This view contains 1 analyzed proteins: OPA1. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 2 pathogenic or likely pathogenic variants, 1 variants of uncertain significance and 1 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 8 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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