Sensory ataxic neuropathy - dysarthria - ophthalmoparesis: genes and variants
Explore variant evidence for Sensory ataxic neuropathy - dysarthria - ophthalmoparesis across 1 analyzed protein (POLG). Linked ClinVar records include 6 pathogenic or likely pathogenic variants, 13 variants of uncertain significance and 12 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.
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Genes linked to Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
POLG: DNA polymerase subunit gamma-1
It replicates and repairs mitochondrial DNA and is therefore essential for maintaining mitochondrial genome copy number and integrity. Pathogenic variants cause a broad spectrum including Alpers syndrome, progressive external ophthalmoplegia, epilepsy, ataxia, neuropathy, and liver disease.
6 ClinVar pathogenic / likely pathogenic and 25 uncertain variants in POLG have source records linked to Sensory ataxic neuropathy - dysarthria - ophthalmoparesis. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| POLG V1106A | 1106 | Pathogenic / likely pathogenic (★★) | |
| POLG G1051R | 1051 | Pathogenic / likely pathogenic (★★) | |
| POLG M919V | 919 | Pathogenic / likely pathogenic (★) | |
| POLG L931R | 931 | Pathogenic / likely pathogenic (★) | |
| POLG E454D | 454 | Pathogenic / likely pathogenic (★) | |
| POLG A467T | 467 | Pathogenic / likely pathogenic |
Same protein, different disease
- Progressive sclerosing poliodystrophy also has ClinVar records linked to POLG variants; they fall mostly in different places as the Sensory ataxic neuropathy - dysarthria - ophthalmoparesis variants (77 pathogenic / likely pathogenic).
- Alpers syndrome also has ClinVar records linked to POLG variants; they fall mostly in different places as the Sensory ataxic neuropathy - dysarthria - ophthalmoparesis variants (26 pathogenic / likely pathogenic).
- Progressive external ophthalmoplegia with mitochondrial DNA deletions also has ClinVar records linked to POLG variants; they fall mostly in different places as the Sensory ataxic neuropathy - dysarthria - ophthalmoparesis variants (17 pathogenic / likely pathogenic).
- Mitochondrial disease also has ClinVar records linked to POLG variants; they fall mostly in different places as the Sensory ataxic neuropathy - dysarthria - ophthalmoparesis variants (6 pathogenic / likely pathogenic).
Diseases related to Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
- Progressive sclerosing poliodystrophy, also linked to POLG
- Fanconi anemia complementation group J, also linked to POLG
- Alpers syndrome, also linked to POLG
- Fanconi anemia, also linked to POLG
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, also linked to POLG
- Mitochondrial disease, also linked to POLG
- Possible mitochondrial disorder - nuclear genes, also linked to POLG
- Mitochondrial DNA maintenance disorder, also linked to POLG
Frequently asked questions
Which genes have records linked to Sensory ataxic neuropathy - dysarthria - ophthalmoparesis?
This view contains 1 analyzed proteins: POLG. 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 6 pathogenic or likely pathogenic variants, 13 variants of uncertain significance and 12 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 45 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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