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All inquiries, additions to the list, and comments should be made to Bill Copeland.

Amino Acid Substitution: G517V cDNA Position: 1550 g→t (exon 8)
Disease	Genetics	Frequency	Reference
Ataxia - neuropathy	Found in trans w/ E1143G in a father and his 8 y.o. daughter w/ exercise intolerance, ataxia, and neuropathy.	Not found in 250 control individuals	(Horvath et al., 2006) PubMed
Leigh Syndrome	Found as a heterozygous mutation in a female pt. w/ dominant ataxia and neuropathy	Sarzi et al. 2007 reported 2% (n=50) of patients with multiple respiratory chain deficiency with a 35% decrease of mtDNA were found with the mutation L428P. 19% (9 out of 50) had various mutations in POLG.	(Sarzi et al., 2007) PubMed
Myopathy and micro-cephaly	Found in trans w/ D1196N and R1128H		(Wong et al., 2008) PubMed
adPEO	Heterozygous, short-stature, Leigh-like disease, neuropathy, stroke, dystonia, chorea, diabetes, myoclonus, Sideroblastic anemia, splenomegaly, Pearson Syndrome to KSS		(Wong et al., 2008) PubMed
Myoclonic epilepsy	In trans w/R722H, and in association w/ a mutation in SCN1A, R1645Q		(Bolszak et al., 2009) PubMed
Cerebellar ataxia, dystonia, epilepsy, PEO, hypotonia, mental retardation, and chorea	ad, 4 patients ages 4-40 yrs.	<0.5% in a Dutch population	(Blok and van den Bosch et al., 2009) PubMed
Seizures, hypoglycemia, myoclonus, hypotonia, and developmental delay	Heterozygous, found in 2 half siblings and their unaffected mother		(Burusnukul and de los Reyes, 2009) PubMed
Cerebellar ataxia, PEO, and dysphagia	Heterozygous. Found in a 44 yr. old patient		(Schulte et al., 2009) PubMed
Diabetes, strokes, psychosis, and epilepsy	Heterozygous. Ad, found in twins, their mother, and grandmother		(Hopkins et al., 2009) PubMed
PEO	56 y.o. male with a heterozygous mutation, and ptosis, myopathy, neuropathy, and mtDNA deletions.		(Ferreira et al., 2011) PubMed
PEO	Found as a heterozygous mutation in a 33 y.o. female with PEO and mtDNA deletions. Father also affected.		(Ferreira et al., 2011) PubMed
PEO	Found in cis w/ Y955C in a 47 y.o. w/ PEO, ptosis, myopathy, and neuropathy	Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies.	(Tang et al., 2011) PubMed
Seizures and mitochondrial myopathy	Found as a heterozygous mutation in a 56 y.o. woman with mitochondrial myopathy, seizures, ataxia, dysarthria, and dysphonia	1 in 322 mitochondrial disease patients	(Woodbridge et al., 2012) PubMed
Neuronal ceroid lipofuscinosis	Maternally inherited heterozygous mutation found with a mutation in CLN5. Infant with hypotonia, bilateral ptosis, and diffuse cerebral atrophy. A 45% reduction in mtDNA compared to controls.		(Staropoli et al., 2012) PubMed
Neutral polymorphism	Biochmeical analysis of the recombinant Pol gamma with G517V revealed wild type activity		(Kasiviswanathan and Copeland, 2011) PubMed
Parkinsonism	Found in a male 42 y.o. male with a RAB39B variant. Has L- DOPA response, spastic paraparesis, cerebellar dysfunction, and early Parkinsonism.	1of 344 Parkinson patients	(M. Guldner, el al. 2016) PubMed
PEO	Found in trans w/Q1236H in a 23 y.o. with PEO and hypostenia.		(Pozzo et al., 2017) PubMed