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

Amino Acid Substitution: R964C cDNA Position: 2890 c → t (exon 18)
Disease	Genetics	Frequency	Reference
Mitochondrial toxicity susceptibility to NRTIs	Found in a HIV1 patient with hyperlactatemia following 1 yr. of d4T and 3TC anti-viral treatment	Not found in 26 Thai HIV-1-infected individuals, or 110 healthy volunteers	(Yamanaka et al., 2007) PubMed
Ataxia Neuropathy	Found in trans w/ A862T, and found as a heterozygous mutation w/ ataxia and hypotonia		(Wong et al., 2008) PubMed
Cerebellar ataxia, neuropathy, epilepsy, and restless leg syndrome	Found heterozygous with A862T in 2 siblings that died in their early 20’s		(Stricker et al., 2009) PubMed
Ataxia	Found in trans w/ A962T in a 14 y.o. w/ ataxia, muscle weakness, and central hypoventilation	Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies.	(Tang et al., 2011) PubMed
PEO	Found in trans w/Q53-Q55 duplicate in an 8 y.o. male with recessive ataxia, PEO, and hyoptonia		Ohba et al., 2013 PubMed
Ovarian dysfunction	Found one homozygous female with irregular menstrual cycles and abnormal oocytes.		(Chen et al., 2018) PubMed
Young onset Parkinson's disease	Found as heterozygous in cis with GBA L444P in a 59-year-old male presenting with right hand tremor at the age of 39 years, followed by slow movement, rigidity, and postural instability.		(Hsieh et al., 2019) PubMed
MDS	Found in a large cohort study.		(Hikmat et al., 2020) PubMed
Epilepsy	Found in a cross-sectional study of 22676 genetic variants associated with epilepsy		(SoRelle et al., 2020) PubMed