Table 1.
Patient samples from the 960 sample data set that contain known pathogenic variants
| Sample name | Mutation | Heteroplasmy (%) | Phenotype associated with variant | Igenomix coverage | mtDNA coverage | Haplogroup | Current age (years) | Gestational age (months) | Gender | Patient race | Ethnicity |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient_116 | m.1494C>T | 85.1 | DEAF | 1.47553 | 559.1176293 | L1c | 19 | 24 | Male | Black or African‐American | Non‐Hispanic |
| Patient_152 | m.7471dup | 16.4 | PEM/AMDF/motor neuron disease‐like | 1.38653 | 738.1543847 | L2b | 16 | 25 | Male | Black or African‐American | Non‐Hispanic |
| Patient_203 | m.3243A>G | 7.1 | MELAS/LS/DMDF/MIDD/SNHL/CPEO/MM/FSGS/ASD/cardiac + multi‐organ dysfunction | 1.31811 | 809.5704629 | K2b | 16 | 24 | Female | White | Non‐Hispanic |
| Patient_242 | m.3243A>G | 53 | MELAS/LS/DMDF/MIDD/SNHL/CPEO/MM/FSGS/ASD/cardiac + multi‐organ dysfunction | 3.09628 | 1383.373529 | H | 16 | 30 | Female | White | Non‐Hispanic |
| Patient_727 | m.1555A>G | 68.6 | DEAF; autism spectrum intellectual disability; possibly antiatherosclerotic | 1.70454 | 1026.711509 | L3 | 2 | 24 | Female | Unknown | Non‐Hispanic |
| Patient_823 | m.1555A>G | 70.8 | DEAF; autism spectrum intellectual disability; possibly antiatherosclerotic | 2.26769 | 1117.326332 | T2b | 2 | 27 | Female | White | Non‐Hispanic |
| Patient_875 | m.11778G>A | 91.7 | LHON/progressive dystonia | 1.5207 | 1546.552296 | H27 | 3 | 28 | Male | White | Non‐Hispanic |
| Patient_877 | m.3243A>G | 85.8 | MELAS/LS/DMDF/MIDD/SNHL/CPEO/MM/FSGS/ASD/cardiac + multi‐organ dysfunction | 1.96847 | 1757.391514 | L1c | 11 | 29 | Female | Black or African‐American | Non‐Hispanic |
Note: All 957 samples that successfully completed the automated pipeline were manually examined for the presence of known pathogenic variants in their mtDNA. Eight samples were identified as containing known pathogenic variants, as shown in the table.
Abbreviations: AMDF, ataxia, myoclonus, and deafness; ASD, autism spectrum disorder; CPEO, chronic progressive external ophthalmoplegia; DEAF, deafness; DMDF, diabetes mellitus and deafness; FSGS, focal segmental glomerulosclerosis; LHON, Leber hereditary optic neuropathy; LS, Leigh syndrome; MELAS, mitochondrial encephalopathy, lactic acidosis, and stroke‐like episodes; MIDD, maternally inherited diabetes and deafness; MM, mitochondrial myopathy; mtDNA, mitochondrial genome; PEM, progressive encephalomyopathy; SNHL, sensorineural hearing loss.