| - GRCh37:
- Chr5:240523
- GRCh38:
- Chr5:240408
| SDHA | N447D, N495D | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG,
Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy
| Uncertain significance
(Jun 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:254442
- GRCh38:
- Chr5:254327
| SDHA | | Neurodegeneration with ataxia and late-onset optic atrophy, Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1
| Benign
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:225768
- GRCh38:
- Chr5:225653
| SDHA | | Neurodegeneration with ataxia and late-onset optic atrophy, Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1
| Benign
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:233707
- GRCh38:
- Chr5:233592
| SDHA | A290fs, A338fs | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Hereditary cancer-predisposing syndrome
| Pathogenic
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:251180
- GRCh38:
- Chr5:251065
| SDHA | L494P, L542P | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:251219
- GRCh38:
- Chr5:251104
| SDHA | | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy, Dilated cardiomyopathy 1GG,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:218510
- GRCh38:
- Chr5:218395
| SDHA | R14W | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Dilated cardiomyopathy 1GG,
Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:226025
- GRCh38:
- Chr5:225910
| SDHA | R114fs, R162fs | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG, Neurodegeneration with ataxia and late-onset optic atrophy
| Pathogenic/Likely pathogenic
(Sep 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:256714
- GRCh38:
- Chr5:256599
| SDHA | | Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy, Paragangliomas 5,
Dilated cardiomyopathy 1GG, Hereditary pheochromocytoma-paraganglioma, Leigh syndrome,
Mitochondrial complex II deficiency, nuclear type 1 | Uncertain significance
(Aug 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:231029
- GRCh38:
- Chr5:230914
| SDHA | H222L, H270L | Hereditary cancer-predisposing syndrome, Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1,
Neurodegeneration with ataxia and late-onset optic atrophy, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5 | Uncertain significance
(Feb 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:225678
- GRCh38:
- Chr5:225563
| SDHA | | Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG,
Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy, Hereditary cancer-predisposing syndrome,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5 | Likely pathogenic
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:226126
- GRCh38:
- Chr5:226011
| SDHA | | Neurodegeneration with ataxia and late-onset optic atrophy, Dilated cardiomyopathy 1GG, Paragangliomas 5,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1,
Hereditary cancer-predisposing syndrome | Likely benign
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:218521
- GRCh38:
- Chr5:218406
| SDHA | | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy,
Dilated cardiomyopathy 1GG, Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5 | Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:251483
- GRCh38:
- Chr5:251368
| SDHA | T565N, T517N | Hereditary cancer-predisposing syndrome, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, Dilated cardiomyopathy 1GG, Neurodegeneration with ataxia and late-onset optic atrophy,
Mitochondrial complex II deficiency, nuclear type 1 | Uncertain significance
(May 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:225586
- GRCh38:
- Chr5:225471
| SDHA | H122R | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Dilated cardiomyopathy 1GG,
Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5
| Uncertain significance
(Jan 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:251133
- GRCh38:
- Chr5:251018
| SDHA | R527fs, R479fs | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Hereditary cancer-predisposing syndrome,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Dilated cardiomyopathy 1GG,
Neurodegeneration with ataxia and late-onset optic atrophy | Pathogenic/Likely pathogenic
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:226100
- GRCh38:
- Chr5:225985
| SDHA | H187Y, H139Y | Dilated cardiomyopathy 1GG, Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5
| Uncertain significance
(Jan 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:251486
- GRCh38:
- Chr5:251371
| SDHA | L518R, L566R | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG
| Uncertain significance
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:256489
- GRCh38:
- Chr5:256374
| SDHA | N650S, N569S, N602S | Dilated cardiomyopathy 1GG, Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Nov 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:236634
- GRCh38:
- Chr5:236519
| SDHA | R451H, R403H | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Inborn genetic diseases,
Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:233598
- GRCh38:
- Chr5:233483
| SDHA | Y301C, Y253C | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG,
Paragangliomas 5, Leigh syndrome, Mitochondrial complex II deficiency, nuclear type 1,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Jan 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:218484
- GRCh38:
- Chr5:218369
| SDHA | R5Q | Hereditary cancer-predisposing syndrome, Paragangliomas 5, Dilated cardiomyopathy 1GG,
Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy, Paragangliomas 5,
Mitochondrial complex II deficiency, nuclear type 1 | Uncertain significance
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:231061
- GRCh38:
- Chr5:230946
| SDHA | T281A, T233A | Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG, Paragangliomas 5,
Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Hereditary cancer-predisposing syndrome, Paragangliomas 5 | Uncertain significance
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:233666
- GRCh38:
- Chr5:233551
| SDHA | E324K, E276K | Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy, Dilated cardiomyopathy 1GG,
Paragangliomas 5, Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, Paragangliomas 5 | Uncertain significance
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:224478
- GRCh38:
- Chr5:224363
| SDHA | S52T | Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy,
Dilated cardiomyopathy 1GG, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5 | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:236606
- GRCh38:
- Chr5:236491
| SDHA | A442T, A394T | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1,
Neurodegeneration with ataxia and late-onset optic atrophy, Dilated cardiomyopathy 1GG, Paragangliomas 5,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:224528
- GRCh38:
- Chr5:224413
| SDHA | | Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy, Dilated cardiomyopathy 1GG,
Paragangliomas 5, Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5 | Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:235272
- GRCh38:
- Chr5:235157
| SDHA | E360K, E312K | Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy, Dilated cardiomyopathy 1GG,
Paragangliomas 5, Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5 | Uncertain significance
(Feb 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:225561
- GRCh38:
- Chr5:225446
| SDHA | M114V | Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy, Dilated cardiomyopathy 1GG,
Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:233650
- GRCh38:
- Chr5:233535
| SDHA | | Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy, Paragangliomas 5,
Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Hereditary cancer-predisposing syndrome | Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:225669
- GRCh38:
- Chr5:225554
| SDHA | V150M | Hereditary cancer-predisposing syndrome, Paragangliomas 5, Leigh syndrome,
Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG, Paragangliomas 5,
Mitochondrial complex II deficiency, nuclear type 1 | Uncertain significance
(Jan 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:225666
- GRCh38:
- Chr5:225551
| SDHA | A149T | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Leigh syndrome,
Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:233690
- GRCh38:
- Chr5:233575
| SDHA | P332S, P284S | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG,
Leigh syndrome, not provided, Paragangliomas 5,
Mitochondrial complex II deficiency, nuclear type 1, Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:226125
- GRCh38:
- Chr5:226010
| SDHA | R195Q, R147Q | Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy,
Paragangliomas 5, Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5 | Uncertain significance
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:251182
- GRCh38:
- Chr5:251067
| SDHA | Y543H, Y495H | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1,
Neurodegeneration with ataxia and late-onset optic atrophy, Paragangliomas 5, Dilated cardiomyopathy 1GG,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:235344
- GRCh38:
- Chr5:235229
| SDHA | S384A, S336A | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Leigh syndrome,
Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:233697
- GRCh38:
- Chr5:233582
| SDHA | A334V, A286V | Dilated cardiomyopathy 1GG, Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, not provided | Uncertain significance
(Feb 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:228363
- GRCh38:
- Chr5:228248
| SDHA | E182fs, E230fs | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy, Dilated cardiomyopathy 1GG,
Hereditary cancer-predisposing syndrome, Paragangliomas 5, not provided
| Pathogenic/Likely pathogenic
(Nov 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:228363
- GRCh38:
- Chr5:228248
| SDHA | G229R, G181R | Dilated cardiomyopathy 1GG, Leigh syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr5:218472
- GRCh38:
- Chr5:218357
| SDHA | M1R | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Hereditary cancer-predisposing syndrome,
Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy,
Paragangliomas 5, not provided | Pathogenic/Likely pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:251207
- GRCh38:
- Chr5:251092
| SDHA | T551M, T503M | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy,
Dilated cardiomyopathy 1GG, Hereditary cancer-predisposing syndrome, Paragangliomas 5,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5 | Uncertain significance
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:240502
- GRCh38:
- Chr5:240387
| SDHA | A488T, A440T | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy,
Dilated cardiomyopathy 1GG, Hereditary cancer-predisposing syndrome, Leigh syndrome,
Mitochondrial complex II deficiency, nuclear type 1, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5
| Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:224493
- GRCh38:
- Chr5:224378
| SDHA | V57L | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy,
Dilated cardiomyopathy 1GG, Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5 | Uncertain significance
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:218483
- GRCh38:
- Chr5:218368
| SDHA | R5W | Dilated cardiomyopathy 1GG, Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy,
Mitochondrial complex II deficiency, nuclear type 1, Hereditary cancer-predisposing syndrome, Paragangliomas 5,
Mitochondrial complex II deficiency, nuclear type 1, not provided | Uncertain significance
(Feb 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:256468
- GRCh38:
- Chr5:256353
| SDHA | P643R, P562R, P595R | Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG, Paragangliomas 5,
Neurodegeneration with ataxia and late-onset optic atrophy, Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5 | Uncertain significance
(Mar 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:233651
- GRCh38:
- Chr5:233536
| SDHA | I319L, I271L | Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1, Leigh syndrome,
Dilated cardiomyopathy 1GG, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, not specified,
not provided | Conflicting interpretations of pathogenicity
(Jan 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:235309
- GRCh38:
- Chr5:235194
| SDHA | P372R, P324R | Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG,
Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy, Hereditary cancer-predisposing syndrome,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1,
not provided | Uncertain significance
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:225645
- GRCh38:
- Chr5:225530
| SDHA | M142V | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Hereditary cancer-predisposing syndrome,
Paragangliomas 5, Dilated cardiomyopathy 1GG, Neurodegeneration with ataxia and late-onset optic atrophy,
Mitochondrial complex II deficiency, nuclear type 1, not provided | Uncertain significance
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:226148
- GRCh38:
- Chr5:226033
| SDHA | T203A, T155A | Hereditary cancer-predisposing syndrome, Paragangliomas 5, Dilated cardiomyopathy 1GG,
Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial complex II deficiency, nuclear type 1, not provided,
Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1 | Uncertain significance
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:228439-228464
- GRCh38:
- Chr5:228324-228349
| SDHA | | Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy,
Dilated cardiomyopathy 1GG | Pathogenic/Likely pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:231032
- GRCh38:
- Chr5:230917
| SDHA | T271S, T223S | Paragangliomas 5, Dilated cardiomyopathy 1GG, Leigh syndrome,
Mitochondrial complex II deficiency, nuclear type 1, Hereditary cancer-predisposing syndrome, not provided,
Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1 | Uncertain significance
(Feb 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:236711
- GRCh38:
- Chr5:236596
| SDHA | P477S, P429S | Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Neurodegeneration with ataxia and late-onset optic atrophy, Dilated cardiomyopathy 1GG | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:233693
- GRCh38:
- Chr5:233578
| SDHA | V333L, V285L | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Hereditary cancer-predisposing syndrome,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy,
Dilated cardiomyopathy 1GG | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:226007
- GRCh38:
- Chr5:225892
| SDHA | Y156D, Y108D | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Dilated cardiomyopathy 1GG, Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial complex II deficiency, nuclear type 1,
Hereditary cancer-predisposing syndrome, not provided | Uncertain significance
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:226154
- GRCh38:
- Chr5:226039
| SDHA | Y205H, Y157H | Hereditary cancer-predisposing syndrome, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, Dilated cardiomyopathy 1GG, Leigh syndrome,
Mitochondrial complex II deficiency, nuclear type 1, not provided | Uncertain significance
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:240607
- GRCh38:
- Chr5:240492
| SDHA | | Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy, Dilated cardiomyopathy 1GG,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1,
not specified | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:233751
- GRCh38:
- Chr5:233636
| SDHA | R352Q, R304Q | Paragangliomas 5, Leigh syndrome, not provided,
Mitochondrial complex II deficiency, nuclear type 1, Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, Dilated cardiomyopathy 1GG, Leigh syndrome,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Hereditary pheochromocytoma-paraganglioma,
...see more | Conflicting interpretations of pathogenicity
(Dec 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:240574
- GRCh38:
- Chr5:240459
| SDHA | R512*, R464* | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Hereditary cancer-predisposing syndrome,
not provided, Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy, Paragangliomas 5
| Pathogenic/Likely pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:230980
- GRCh38:
- Chr5:230865
| SDHA | | Hereditary cancer-predisposing syndrome, not specified, Neurodegeneration with ataxia and late-onset optic atrophy,
not provided, Hereditary pheochromocytoma-paraganglioma, Leigh syndrome,
Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:233687
- GRCh38:
- Chr5:233572
| SDHA | A331T, A283T | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Leigh syndrome, Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG,
not provided, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:256459
- GRCh38:
- Chr5:256344
| SDHA | E640G, E559G, E592G | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Hereditary cancer-predisposing syndrome,
Leigh syndrome, Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG,
Paragangliomas 5, not provided, Paragangliomas 5
| Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:224479
- GRCh38:
- Chr5:224364
| SDHA | S52F | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG, Leigh syndrome,
Hereditary cancer-predisposing syndrome, not specified, not provided
| Uncertain significance
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:223625
- GRCh38:
- Chr5:223510
| SDHA | R31Q | not provided, Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy,
Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG, Hereditary cancer-predisposing syndrome,
Paragangliomas 5, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1
| Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:233615
- GRCh38:
- Chr5:233500
| SDHA | I307V, I259V | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Dilated cardiomyopathy 1GG,
Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:228372
- GRCh38:
- Chr5:228257
| SDHA | R232C, R184C | Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1, Leigh syndrome,
Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:254511
- GRCh38:
- Chr5:254396
| SDHA | R600W, R552W, R519W | Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG, Paragangliomas 5,
Neurodegeneration with ataxia and late-onset optic atrophy, Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, not provided | Uncertain significance
(Feb 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:240575
- GRCh38:
- Chr5:240460
| SDHA | R512Q, R464Q | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Hereditary cancer-predisposing syndrome,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Dilated cardiomyopathy 1GG,
Neurodegeneration with ataxia and late-onset optic atrophy, not specified | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:236714-236715
- GRCh38:
- Chr5:236599-236600
| SDHA | | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Paraganglioma,
Dilated cardiomyopathy 1GG, Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
not provided | Pathogenic/Likely pathogenic
(Dec 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:236555
- GRCh38:
- Chr5:236440
| SDHA | V425M, V377M | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Dilated cardiomyopathy 1GG,
Neurodegeneration with ataxia and late-onset optic atrophy, Hereditary cancer-predisposing syndrome, Paragangliomas 5,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, not provided
| Uncertain significance
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:228417
- GRCh38:
- Chr5:228302
| SDHA | I247V, I199V | Leigh syndrome, Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Hereditary cancer-predisposing syndrome, Paragangliomas 5 | Conflicting interpretations of pathogenicity
(Oct 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:256513
- GRCh38:
- Chr5:256398
| SDHA | P658L, P610L, P577L | Hereditary cancer-predisposing syndrome, Dilated cardiomyopathy 1GG, Leigh syndrome,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, not specified, Mitochondrial complex II deficiency, nuclear type 1,
not provided, Hereditary pheochromocytoma-paragangliomaLeigh syndrome,
...see more | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:251219
- GRCh38:
- Chr5:251104
| SDHA | | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Dilated cardiomyopathy 1GG,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:223646
- GRCh38:
- Chr5:223531
| SDHA | D38V | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Hereditary cancer-predisposing syndrome,
Hereditary pheochromocytoma-paraganglioma, Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1,
not specified, Leigh syndrome, not provided
| Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:228382
- GRCh38:
- Chr5:228267
| SDHA | I235T, I187T | Mitochondrial complex II deficiency, nuclear type 1, Neurodegeneration with ataxia and late-onset optic atrophy, Paragangliomas 5,
Dilated cardiomyopathy 1GG, Hereditary cancer-predisposing syndrome, not provided,
Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Leigh syndrome | Uncertain significance
(Feb 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:224547
- GRCh38:
- Chr5:224432
| SDHA | R75* | Hereditary cancer-predisposing syndrome, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 5, not provided, Mitochondrial complex II deficiency, nuclear type 1,
Dilated cardiomyopathy 1GG, Neurodegeneration with ataxia and late-onset optic atrophy, Paragangliomas 5
| Pathogenic/Likely pathogenic
(Nov 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:251542
- GRCh38:
- Chr5:251427
| SDHA | R585W, R537W | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy,
Hereditary cancer-predisposing syndrome, Leigh syndrome, Mitochondrial complex II deficiency, nuclear type 1,
Dilated cardiomyopathy 1GG, Paragangliomas 5, not provided,
Paragangliomas 5 | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:223624
- GRCh38:
- Chr5:223509
| SDHA | R31* | Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1,
Dilated cardiomyopathy 1GG, Paragangliomas 5, Neurodegeneration with ataxia and late-onset optic atrophy,
Hereditary cancer-predisposing syndrome, not provided, Paragangliomas 5,
Gastrointestinal stromal tumor, Pilocytic astrocytomaLeigh syndrome,
Mitochondrial complex II deficiency, nuclear type 1, ...see more | Pathogenic/Likely pathogenic
(Nov 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:231111
- GRCh38:
- Chr5:230996
| SDHA | | Hereditary cancer-predisposing syndrome, Neurodegeneration with ataxia and late-onset optic atrophy, Paragangliomas 5,
Mitochondrial complex II deficiency, nuclear type 1, not specified, not provided,
Hereditary pheochromocytoma-paraganglioma, Leigh syndrome, Dilated cardiomyopathy 1GG,
Mitochondrial complex II deficiency, nuclear type 1 | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:251445
- GRCh38:
- Chr5:251330
| SDHA | | Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
not specified, Hereditary pheochromocytoma-paraganglioma, Leigh syndrome,
Mitochondrial complex II deficiency, nuclear type 1 | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:251453
- GRCh38:
- Chr5:251338
| SDHA | G555E, G507E | Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1 | Pathogenic
(Sep 14, 2022) | criteria provided, single submitter |