| - GRCh37:
- Chr15:89872221-89872222
- GRCh38:
- Chr15:89328990-89328991
| POLG, POLGARF | T326fs | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | Uncertain significance
(Feb 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89861861
- GRCh38:
- Chr15:89318630
| POLG, POLGARF | I1131M | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | Uncertain significance
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89866112
- GRCh38:
- Chr15:89322881
| POLG, POLGARF | G763R | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | Likely pathogenic
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89872157
- GRCh38:
- Chr15:89328926
| POLG, POLGARF | | Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 1,
Progressive sclerosing poliodystrophy | Likely benign
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89870393
- GRCh38:
- Chr15:89327162
| POLG, POLGARF | | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive sclerosing poliodystrophy | Uncertain significance
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89860718
- GRCh38:
- Chr15:89317487
| POLG, POLGARF | A1178T | Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
Progressive sclerosing poliodystrophy | Uncertain significance
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89865080
- GRCh38:
- Chr15:89321849
| POLG, POLGARF | P829S | Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
Progressive sclerosing poliodystrophy | Uncertain significance
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89867109
- GRCh38:
- Chr15:89323878
| POLG, POLGARF | E698D | Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive sclerosing poliodystrophy | Uncertain significance
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89862145
- GRCh38:
- Chr15:89318914
| POLGARF, POLG | | Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive sclerosing poliodystrophy | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89868723
- GRCh38:
- Chr15:89325492
| POLG, POLGARF | T636R | Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1,
Progressive sclerosing poliodystrophy | Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89872202
- GRCh38:
- Chr15:89328971
| POLG, POLGARF | S332F | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Progressive sclerosing poliodystrophy,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b | Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89864316-89864317
- GRCh38:
- Chr15:89321085-89321086
| POLG, POLGARF | | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy | Benign
(Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89862208
- GRCh38:
- Chr15:89318977
| POLG, POLGARF | G1076D | Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
not provided, Progressive sclerosing poliodystrophy | Uncertain significance
(Aug 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89872344
- GRCh38:
- Chr15:89329113
| POLG, POLGARF | | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Uncertain significance
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89876786
- GRCh38:
- Chr15:89333555
| POLG, POLGARF | G67A | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Uncertain significance
(Jan 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89866643
- GRCh38:
- Chr15:89323412
| POLG, POLGARF | P753S | Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive sclerosing poliodystrophy | Uncertain significance
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89868694
- GRCh38:
- Chr15:89325463
| POLG, POLGARF | V646F | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89866645
- GRCh38:
- Chr15:89323414
| POLG, POLGARF | L752P | Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
Progressive sclerosing poliodystrophy, POLG-Related Spectrum Disorders | Uncertain significance
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89876584
- GRCh38:
- Chr15:89333353
| POLG, POLGARF | N134K | not provided, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy | Uncertain significance
(Aug 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89862284
- GRCh38:
- Chr15:89319053
| POLG, POLGARF | G1051W | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy,
POLG-Related Spectrum Disorders | Conflicting interpretations of pathogenicity
(Feb 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89873437
- GRCh38:
- Chr15:89330206
| POLG, POLGARF | L244V | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89876898
- GRCh38:
- Chr15:89333667
| POLG, POLGARF | V30I | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive sclerosing poliodystrophy, not provided
| Uncertain significance
(Apr 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89876655
- GRCh38:
- Chr15:89333424
| POLG, POLGARF | G111R | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1not provided,
Progressive sclerosing poliodystrophy, ...see more | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89861988
- GRCh38:
- Chr15:89318757
| POLG, POLGARF | | Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | Likely benign
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102749579
- GRCh38:
- Chr10:100989822
| TWNK | W20C, W474C | not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | Pathogenic
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89864412
- GRCh38:
- Chr15:89321181
| POLG, POLGARF | S893F | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | Likely pathogenic
(Jul 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89862224
- GRCh38:
- Chr15:89318993
| POLG, POLGARF | R1071C | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1,
Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Uncertain significance
(Jul 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89872328
- GRCh38:
- Chr15:89329097
| POLG, POLGARF | R290H | not provided, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy | Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89862179-89862180
- GRCh38:
- Chr15:89318948-89318949
| POLGARF, POLG | S1086fs | Progressive sclerosing poliodystrophy | Pathogenic
(Dec 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89865207
- GRCh38:
- Chr15:89321976
| POLG, POLGARF | | Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89862366
- GRCh38:
- Chr15:89319135
| POLG, POLGARF | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, not provided, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
| Benign
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89873343
- GRCh38:
- Chr15:89330112
| POLG, POLGARF | R275Q | Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy | Uncertain significance
(Mar 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89864421
- GRCh38:
- Chr15:89321190
| POLG, POLGARF | D890A | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | Pathogenic
(Oct 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89867124-89867126
- GRCh38:
- Chr15:89323893-89323895
| POLG, POLGARF | E693del | Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy | Uncertain significance
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89867060
- GRCh38:
- Chr15:89323829
| POLG, POLGARF | Q715* | Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy | Pathogenic
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89867154
- GRCh38:
- Chr15:89323923
| POLG, POLGARF | | Progressive sclerosing poliodystrophy, not provided, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
| Benign
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89862458
- GRCh38:
- Chr15:89319227
| POLG, POLGARF | | Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy, not provided | Pathogenic/Likely pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89860605
- GRCh38:
- Chr15:89317374
| POLGARF, POLG | | Mitochondrial disease | Pathogenic
(May 6, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr15:89860690
- GRCh38:
- Chr15:89317459
| POLG, POLGARF | R1187Q | not provided, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive sclerosing poliodystrophy | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89864386
- GRCh38:
- Chr15:89321155
| POLG, POLGARF | L902V | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
not provided, Progressive sclerosing poliodystrophy, Inborn genetic diseases
| Uncertain significance
(Jan 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89873428
- GRCh38:
- Chr15:89330197
| POLG, POLGARF | L247V | Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
not provided, Progressive sclerosing poliodystrophy, Inborn genetic diseases
| Uncertain significance
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89876555
- GRCh38:
- Chr15:89333324
| POLGARF, POLG | Q144R | Inborn genetic diseases, not provided, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
| Uncertain significance
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89876726
- GRCh38:
- Chr15:89333495
| POLG, POLGARF | I87T | Inborn genetic diseases, Progressive sclerosing poliodystrophy | Uncertain significance
(Jan 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89867339
- GRCh38:
- Chr15:89324108
| POLG, POLGARF | T690M | Inborn genetic diseases, Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy,
Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, not provided
| Uncertain significance
(Aug 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89869886
- GRCh38:
- Chr15:89326655
| POLGARF, POLG | E557Q | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
not provided, Progressive sclerosing poliodystrophy | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89869932-89869940
- GRCh38:
- Chr15:89326701-89326709
| POLG, POLGARF | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive sclerosing poliodystrophy, not provided,
Mitochondrial DNA depletion syndrome 4b | Conflicting interpretations of pathogenicity
(Apr 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89861937
- GRCh38:
- Chr15:89318706
| POLG, POLGARF | V1106A | Inborn genetic diseases, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b | Conflicting interpretations of pathogenicity
(Oct 31, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89870411
- GRCh38:
- Chr15:89327180
| POLG, POLGARF | L474I | Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
not provided | Uncertain significance
(May 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89860035
- GRCh38:
- Chr15:89316804
| FANCI, POLG, POLGARF | I1223V | Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy, not provided
| Conflicting interpretations of pathogenicity
(Oct 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89861812
- GRCh38:
- Chr15:89318581
| POLG, POLGARF | R1148C | Inborn genetic diseases, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Mitochondrial DNA depletion syndrome 4b, not provided, Progressive sclerosing poliodystrophy
| Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89868748
- GRCh38:
- Chr15:89325517
| POLG, POLGARF | R628W | Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Progressive sclerosing poliodystrophy | Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89870555
- GRCh38:
- Chr15:89327324
| POLG, POLGARF | G426S | Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Progressive sclerosing poliodystrophy, not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89873438
- GRCh38:
- Chr15:89330207
| POLG, POLGARF | D243E | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 1,
Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
POLG-Related Spectrum Disorders, not provided, Progressive sclerosing poliodystrophy
| Uncertain significance
(Feb 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89867381
- GRCh38:
- Chr15:89324150
| POLG, POLGARF | A676V | not provided, Inborn genetic diseases, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 1, Progressive sclerosing poliodystrophy,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy
| Conflicting interpretations of pathogenicity
(Nov 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89869909
- GRCh38:
- Chr15:89326678
| POLG, POLGARF | L549fs | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, not provided | Likely pathogenic
(Aug 3, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89865035
- GRCh38:
- Chr15:89321804
| POLG, POLGARF | V844M | not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Mitochondrial DNA depletion syndrome 1, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b | Uncertain significance
(Dec 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89865205
- GRCh38:
- Chr15:89321974
| POLG, POLGARF | R823H | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 1,
Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
not provided, Progressive sclerosing poliodystrophy, not specified
| Uncertain significance
(Mar 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89876357
- GRCh38:
- Chr15:89333126
| POLG, POLGARF | T210I | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive sclerosing poliodystrophy, not provided | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89869942
- GRCh38:
- Chr15:89326711
| POLG, POLGARF | E538A | Inborn genetic diseases, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy, not provided
| Uncertain significance
(Jun 8, 2023) | criteria provided, multiple submitters, no conflicts |
| | | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Likely pathogenic
(Mar 18, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr15:89862457
- GRCh38:
- Chr15:89319226
| POLGARF, POLG | | Mitochondrial DNA depletion syndrome 1, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
not provided | Likely pathogenic
(Oct 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89876956
- GRCh38:
- Chr15:89333725
| POLGARF, POLG | | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive sclerosing poliodystrophy | Likely benign
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89864001
- GRCh38:
- Chr15:89320770
| POLG, POLGARF | R993C | Inborn genetic diseases, not provided, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
| Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89862231
- GRCh38:
- Chr15:89319000
| POLG, POLGARF | D1068E | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive sclerosing poliodystrophy, not specified, Inborn genetic diseases,
not provided | Uncertain significance
(Jul 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89871989
- GRCh38:
- Chr15:89328758
| POLG, POLGARF | G366A | Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy, not provided | Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89872272
- GRCh38:
- Chr15:89329041
| POLG, POLGARF | R309C | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
not provided, Progressive sclerosing poliodystrophy | Pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89870397
- GRCh38:
- Chr15:89327166
| POLG, POLGARF | | not provided, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy | Pathogenic
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89864238
- GRCh38:
- Chr15:89321007
| POLG, POLGARF | T914P | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, not provided,
POLG-Related Spectrum Disorders, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Mitochondrial DNA depletion syndrome 4b, Tip-toe gaitProgressive sclerosing poliodystrophy,
...see more | Pathogenic/Likely pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89862488
- GRCh38:
- Chr15:89319257
| POLG, POLGARF | | Progressive sclerosing poliodystrophy, not provided, Progressive sclerosing poliodystrophy,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89865055
- GRCh38:
- Chr15:89321824
| POLG, POLGARF | Y837C | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive sclerosing poliodystrophy, not specified | Uncertain significance
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89870158
- GRCh38:
- Chr15:89326927
| POLG, POLGARF | P524A | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
not provided, Progressive sclerosing poliodystrophy | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89870428
- GRCh38:
- Chr15:89327197
| POLG, POLGARF | N468S | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
not provided, Inborn genetic diseases, Progressive sclerosing poliodystrophy
| Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89876640
- GRCh38:
- Chr15:89333409
| POLG, POLGARF | P116S | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
not provided, Progressive sclerosing poliodystrophy | Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89876658
- GRCh38:
- Chr15:89333427
| POLG, POLGARF | H110Y | Inborn genetic diseases, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
not provided, not specified, Progressive sclerosing poliodystrophy
| Conflicting interpretations of pathogenicity
(Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89862486
- GRCh38:
- Chr15:89319255
| POLG, POLGARF | R1026H | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
not provided, Progressive sclerosing poliodystrophy | Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89870429
- GRCh38:
- Chr15:89327198
| POLG, POLGARF | N468D | POLG-Related Spectrum Disorders, Inborn genetic diseases, Progressive sclerosing poliodystrophy,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, not specified, Progressive sclerosing poliodystrophy,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4bSensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive sclerosing poliodystrophy,
Mitochondrial DNA depletion syndrome 4b, not provided, Hereditary spastic paraplegia,
Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Intellectual disability, Seizure, ...see more | Conflicting interpretations of pathogenicity
(Aug 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89870503
- GRCh38:
- Chr15:89327272
| POLG, POLGARF | R443H | Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
not provided | Uncertain significance
(Jan 30, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89872282
- GRCh38:
- Chr15:89329051
| POLG, POLGARF | S305R | Inborn genetic diseases, not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive sclerosing poliodystrophy | Pathogenic/Likely pathogenic
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89872335
- GRCh38:
- Chr15:89329104
| POLG, POLGARF | R288C | Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b, not provided,
Progressive sclerosing poliodystrophy | Conflicting interpretations of pathogenicity
(Jul 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89873448
- GRCh38:
- Chr15:89330217
| POLG, POLGARF | S240L | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive sclerosing poliodystrophy, not provided | Uncertain significance
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89873489
- GRCh38:
- Chr15:89330258
| POLG, POLGARF | Q226H | POLG-Related Spectrum Disorders, Inborn genetic diseases, not specified,
not provided, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Conflicting interpretations of pathogenicity
(Aug 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89876526
- GRCh38:
- Chr15:89333295
| POLGARF, POLG | A154T | Inborn genetic diseases, not provided, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive sclerosing poliodystrophy | Uncertain significance
(Apr 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89860052
- GRCh38:
- Chr15:89316821
| FANCI, POLG, POLGARF | A1217V | POLG-Related Spectrum Disorders, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b, not specified, not provided,
Progressive sclerosing poliodystrophy, Fanconi anemia complementation group I ...see more | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89860745
- GRCh38:
- Chr15:89317514
| POLG, POLGARF | G1169S | Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
not provided, Progressive sclerosing poliodystrophy | Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89861968
- GRCh38:
- Chr15:89318737
| POLG, POLGARF | R1096C | Mitochondrial disease | Likely pathogenic
(May 23, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr15:89862220
- GRCh38:
- Chr15:89318989
| POLG, POLGARF | T1072S | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Inborn genetic diseases, Progressive sclerosing poliodystrophy, not provided
| Uncertain significance
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89876900
- GRCh38:
- Chr15:89333669
| POLG, POLGARF | S29C | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
not provided, Progressive sclerosing poliodystrophy | Uncertain significance
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89862296
- GRCh38:
- Chr15:89319065
| POLG, POLGARF | R1047W | Inborn genetic diseases, not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive sclerosing poliodystrophy | Conflicting interpretations of pathogenicity
(Jun 2, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89862487
- GRCh38:
- Chr15:89319256
| POLG, POLGARF | R1026C | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
POLG-Related Spectrum Disorders, POLG-related disorders, not provided
| Uncertain significance
(Apr 27, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89865007
- GRCh38:
- Chr15:89321776
| POLG, POLGARF | R853Q | Progressive sclerosing poliodystrophy, not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
| Pathogenic/Likely pathogenic
(Jan 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89865011
- GRCh38:
- Chr15:89321780
| POLG, POLGARF | R852C | Inborn genetic diseases, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, not provided, Hereditary spastic paraplegia,
Progressive sclerosing poliodystrophy | Pathogenic
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89866693
- GRCh38:
- Chr15:89323462
| POLGARF, POLG | N736S | POLG-Related Spectrum Disorders, Inborn genetic diseases, Progressive sclerosing poliodystrophy,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, not specified,
not provided, Progressive sclerosing poliodystrophy ...see more | Conflicting interpretations of pathogenicity
(Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89867118
- GRCh38:
- Chr15:89323887
| POLG, POLGARF | D695E | Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive sclerosing poliodystrophy,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
not provided, Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy
| Uncertain significance
(Aug 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89867349
- GRCh38:
- Chr15:89324118
| POLG, POLGARF | I687V | Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
not provided | Uncertain significance
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89876827-89876828
- GRCh38:
- Chr15:89333596-89333597
| POLG, POLGARF | | Inborn genetic diseases, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, not specified, not provided,
Progressive sclerosing poliodystrophy | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89876828-89876836
- GRCh38:
- Chr15:89333597-89333605
| POLG, POLGARF | | Inborn genetic diseases, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, not specified, not provided,
Hereditary spastic paraplegia, Mitochondrial DNA depletion syndrome 4bProgressive sclerosing poliodystrophy,
...see more | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89876828-89876845
- GRCh38:
- Chr15:89333597-89333614
| POLG, POLGARF | | Inborn genetic diseases, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, not specified, Progressive sclerosing poliodystrophy
| Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89861931
- GRCh38:
- Chr15:89318700
| POLG, POLGARF | Y1108F | Progressive sclerosing poliodystrophy, Inborn genetic diseases, Progressive sclerosing poliodystrophy,
Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, not provided | Uncertain significance
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:89862465
- GRCh38:
- Chr15:89319234
| POLG, POLGARF | A1033V | POLG-Related Spectrum Disorders, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, not provided, Progressive sclerosing poliodystrophy,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:89867387
- GRCh38:
- Chr15:89324156
| POLGARF, POLG | G674D | POLG-Related Spectrum Disorders, Inborn genetic diseases, Progressive sclerosing poliodystrophy,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, not specified, not provided,
Progressive sclerosing poliodystrophy | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |