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All inquiries, additions to the list, and comments should be made to Bill Copeland.
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Amino Acid Substitution: R807C
cDNA Position: 2419 c→t (exon 14)
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| Disease | Genetics | Frequency | Reference |
| POLG-related disorders | Found in 40 children with biallelic pathogenic POLG variants who were identified by the CARAMMEL, France’s national coordinating center for mitochondrial disorders over the past 20 years. | 1 out of 32 patients with pathogenic POLG variants | (Rotig et al., 2024) PubMed |
| SANDO | Found in compound w/P648R in a 39 y.o. patient. | (Gago et al., 2006) PubMed |
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| Alpers | Found in trans with E1143G and W748S in a 1 y.o. with epilepsy and Encephalopathy | (Isohanni et al., 2011) PubMed |
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| Ptosis and myopathy | Found as a heterozygous mutation in a 74 y.o. male with myopathy, ptosis, and diplopia | (Ferreira et al., 2011) PubMed |
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| SANDO | Found in trans with P648R in a 49 y.o. pt. with SANDO and mtDNA deletions. | (Ferreira et al., 2011) PubMed |
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| Liver failure | Found in trans w/ A467T in a 1 y.o. w/ encephalopathy, liver failure, and lactic acidosis | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
| Parkinsonism and SANDO | Found in trans w/P648R ina 52 y.o. male with ptosis, muscle weakness,dysphagia, and SANDO with mtDNA deletions and only 5% COX negative ragged red muscle fibers | (Miguel et al., 2014) PubMed |
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| Hepatocerebral MDS | Found in trans with W748S. This infant died at 23 months and had seizures and liver failure triggered by VPA. | Pronicki et al., 2018) PubMed |
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| Late-onset MDS | Found as compound heterozygous in trans with T251I and P587L in a 70 year-old man presenting with a late onset sensory neuronopathy, chronic progressive external ophthalmoplegia, gait ataxia and parkinsonism. | (Meira et al., 2019) PubMed |
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| MDS | Found in a large cohort study. | (Hikmat et al., 2020) PubMed |
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| Epilepsy | Found in a cross-sectional study of 22676 genetic variants associated with epilepsy | (SoRelle et al., 2020) PubMed |
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| Polyradiculoneuritis | Found as biallelic with R232H in a 15-month-old boy who is a undiagnosed developmentally delayed child with paralysis and absent deep-tendon reflexes of lower limbs, progressive demyelinating sensory-motor polyneuropathy on electroneuromyogram, and hyperp | (Roux et al., 2024) PubMed |
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