Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein–Barr Virus
Table 1
Identified pathogenic ATP6 variants.
Variation location
Genes
Conditions
Clinical significance (last reviewed)
Review status
NC_012920.1 (MT-ATP6): m.8783G > A
MT-ATP6
Leigh syndrome, Leber optic atrophy
Pathogenic/likely pathogenic (May 4, 2022)
Criteria provided, multiple submitters, no conflicts
NC_012920.1 (MT-ATP6): m.8993_8994inv
MT-ATP6
NARP syndrome
Pathogenic (October 17, 2019)
Criteria provided, single submitter
NC_012920.1: m.8993T > C
MT-ATP6
Mitochondrial disease
Pathogenic (February 17, 2021)
Reviewed by an expert panel
FDA-recognized database
NC_012920.1: m.8993T > G
MT-ATP6
Mitochondrial disease
Pathogenic (March 22, 2021)
Reviewed by an expert panel
FDA-recognized database
NC_012920.1: m.9176T > C
MT-ATP6
Mitochondrial disease
Pathogenic (June 30, 2022)
Reviewed by an expert panel
FDA-recognized database
NC_012920.1: m.9185T > C
MT-ATP6
Mitochondrial disease
Pathogenic (June 30, 2022)
Reviewed by an expert panel
FDA-recognized database
Based on the searching results of the database:in December 2023.
