SDHA (P31040) variants and mutations
SDHA (also known as P31040) is a human protein-coding gene encoding a succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial protein. It catalyzes oxidation of succinate to fumarate while transferring electrons into respiratory-chain complex II, directly linking the TCA cycle with oxidative phosphorylation. Biallelic deficiency can cause mitochondrial disease, while heterozygous loss-of-function variants predispose to paraganglioma, pheochromocytoma, and selected gastrointestinal stromal tumors. This analysis covers 1,844 SDHA variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes mitochondrial complex II deficiency, nuclear type 1, pheochromocytoma/paraganglioma syndrome 5, and dilated cardiomyopathy 1GG. Example SDHA variants include M1?, M1I, and M1K.
Variant analysis overview
- Gene: SDHA
- Protein: P31040
- UniProt accession: P31040
- Organism: Homo sapiens
- Variants analyzed: 1844
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 1,748 unspecified-consequence records; 40 missense variants; 10 frameshift variants; 39 synonymous variants; 2 stop-gained variants; 2 splice-region variants; 1 in-frame deletions; 3 substitution
- Prediction scores: 1,396 variants have prediction scores (76% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: mitochondrial complex II deficiency, nuclear type 1, pheochromocytoma/paraganglioma syndrome 5, dilated cardiomyopathy 1GG, neurodegeneration with ataxia and late-onset optic atrophy, gastrointestinal stromal tumor, Leigh syndrome, hereditary pheochromocytoma-paraganglioma, familial isolated dilated cardiomyopathy, hereditary neoplastic syndrome, Inherited cancer-predisposing syndrome, paraganglioma, rhabdomyosarcoma.
Protein structure and variant hotspots
- Protein features: 17 binding sites; 28 post-translational modification sites.
- PTM context: 38 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable SDHA variants
Examples include M1?, M1I, M1K, M1L, M1R, M1T, S2*, S2A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, rs1061517, ClinGen CA3172674, ClinVar RCV000230468, ClinVar RCV000567727, MetaLR 0.19, MetaSVM -0.92, Pathogenic
- M1I (p.Met1Ile), rs2126522051, ClinGen CA359007236, ClinVar RCV001962939, ClinGen CA359007238, MetaLR 0.24, MetaSVM -0.65, Pathogenic, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- M1K (p.Met1Lys), rs750380279, ClinGen CA3172675, ClinVar RCV000706101, ClinVar RCV002440542, MetaLR 0.20, MetaSVM -0.70, Pathogenic, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- M1L (p.Met1Leu), rs1061517, ClinGen CA119881, ClinVar RCV000009283, ClinVar RCV001233940, MetaLR 0.19, MetaSVM -0.92, Pathogenic/Likely pathogenic, Hereditary cancer-predisposing syndrome; not provided; Neurodegeneration with at
- M1R (p.Met1Arg), rs750380279, ClinGen CA16618195, ClinVar RCV000478025, ClinVar RCV000649438, MetaLR 0.20, MetaSVM -0.70, Pathogenic/Likely pathogenic, Dilated cardiomyopathy 1GG; Neurodegeneration with ataxia and late-onset optic a
- M1T (p.Met1Thr), rs750380279, ClinGen CA16611812, ClinVar RCV000462474, ClinVar RCV000662887, MetaLR 0.20, MetaSVM -0.70, Pathogenic/Likely pathogenic, Dilated cardiomyopathy 1GG; Mitochondrial complex II deficiency, nuclear type 1
- S2* (p.Ser2Ter), rs780064103, ClinGen CA359007241, ClinVar RCV000797937, ExAC rs780064103, CADD 39.00, Pathogenic
- S2A (p.Ser2Ala), rs758327622, ClinGen CA359007240, ClinVar RCV001902064, ClinVar RCV004039827, AlphaMissense 0.08, MetaLR 0.19, Conflicting interpretations, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- S2L (p.Ser2Leu), rs780064103, ClinGen CA3172677, ClinVar RCV000473246, ClinVar RCV000569083, REVEL 0.11, CADD 23.10, Conflicting interpretations, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- S2P (p.Ser2Pro), rs758327622, ClinGen CA3172676, ClinVar RCV001954520, ClinVar RCV005271511, REVEL 0.06, AlphaMissense 0.08, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- S2T (p.Ser2Thr), ExAC rs758327622, gnomAD rs758327622, REVEL 0.07, AlphaMissense 0.08, Uncertain significance
- S2W (p.Ser2Trp), gnomAD 5-218360-C-G, REVEL 0.09, CADD 23.80
- S2S (p.Ser2Ser), rs751383247, gnomAD 5-218361-G-T, CADD 3.55
- G3A (p.Gly3Ala), rs1398198098, ClinGen CA359007252, ClinVar RCV000703530, ClinVar RCV002369948, REVEL 0.06, CADD 15.50, Uncertain significance, Dilated cardiomyopathy 1GG; Mitochondrial complex II deficiency, nuclear type 1
- G3R (p.Gly3Arg), rs756415935, ClinGen CA3172679, cosmic curated COSV53767, ClinVar RCV002419173, REVEL 0.06, CADD 15.80, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- G3V (p.Gly3Val), NCI-TCGA TCGA novel, REVEL 0.10, CADD 20.90, Variant assessed as somatic; moderate impact.
- G3W (p.Gly3Trp), rs756415935, ClinGen CA359007247, ClinVar RCV001350608, ClinVar RCV004951587, REVEL 0.14, CADD 21.20, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- G3E (p.Gly3Glu), gnomAD 5-218363-G-A, REVEL 0.07, CADD 21.10
- G3G (p.Gly3Gly), rs1252447154, gnomAD 5-218364-G-C, CADD 8.14
- V4A (p.Val4Ala), rs1579369675, ClinGen CA359007266, ClinVar RCV002347167, ClinVar RCV005215829, REVEL 0.07, AlphaMissense 0.08, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- V4D (p.Val4Asp), rs1579369675, ClinGen CA359007262, ClinVar RCV003805691, AlphaMissense 0.08, MetaLR 0.23, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- V4F (p.Val4Phe), rs778069799, ClinGen CA359007258, cosmic curated COSV53772, ClinVar RCV001017300, REVEL 0.10, CADD 16.20, Uncertain significance, Dilated cardiomyopathy 1GG; Pheochromocytoma/paraganglioma syndrome 5; Mitochond
- V4G (p.Val4Gly), rs1579369675, ClinGen CA359007268, cosmic curated COSV53773, ClinVar RCV001010277, REVEL 0.10, AlphaMissense 0.08, Uncertain significance, Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraganglioma syndrome
- V4I (p.Val4Ile), rs778069799, ClinGen CA3172680, ClinVar RCV001243739, ClinVar RCV002430036, REVEL 0.07, CADD 8.73, Conflicting interpretations, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- V4S (p.Val4Ser), rs2126522171, gnomAD 5-218360-CG-C, CADD 10.60
- V4L (p.Val4Leu), gnomAD 5-218365-G-C, REVEL 0.05, CADD 8.43
- V4V (p.Val4Val), gnomAD 5-218367-C-A, CADD 6.89
- R5G (p.Arg5Gly), rs770866830, ClinGen CA3172682, ClinVar RCV001241674, ClinVar RCV002393625, REVEL 0.08, CADD 14.10, Conflicting interpretations, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- R5P (p.Arg5Pro), ExAC rs779027774, TOPMed rs779027774, gnomAD rs779027774, REVEL 0.17, CADD 11.40, Uncertain significance
- R5Q (p.Arg5Gln), rs779027774, ClinGen CA3172683, cosmic curated COSV10960, ClinVar RCV000691271, REVEL 0.08, CADD 10.20, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- R5W (p.Arg5Trp), rs770866830, ClinGen CA16612037, ClinVar RCV000473159, ClinVar RCV001011369, REVEL 0.14, CADD 16.40, Conflicting interpretations, Dilated cardiomyopathy 1GG; Neurodegeneration with ataxia and late-onset optic a
- R5R (p.Arg5Arg), rs770866830, gnomAD 5-218368-C-A, CADD 9.23
- R5L (p.Arg5Leu), gnomAD 5-218369-G-T, REVEL 0.06, CADD 7.16
- G6A (p.Gly6Ala), rs187964306, ClinGen CA359007285, ClinVar RCV001068961, ClinVar RCV002411605, REVEL 0.06, CADD 0.18, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- G6D (p.Gly6Asp), rs187964306, ClinGen CA358571, cosmic curated COSV10729, ClinVar RCV000216190, REVEL 0.03, CADD 1.30, Conflicting interpretations, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- G6R (p.Gly6Arg), rs1352756438, ClinGen CA359007282, ClinVar RCV001893473, ClinVar RCV002397867, AlphaMissense 0.26, MetaLR 0.08, Conflicting interpretations, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- G6S (p.Gly6Ser), rs1352756438, ClinGen CA359007280, NCI-TCGA Cosmic COSV9937, cosmic curated COSV99372, REVEL 0.03, AlphaMissense 0.26, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- G6V (p.Gly6Val), rs187964306, ClinGen CA3172684, ClinVar RCV001053064, ClinVar RCV002409443, REVEL 0.08, CADD 1.87, Uncertain significance, not provided; Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex I
- G6C (p.Gly6Cys), gnomAD 5-218371-G-T, REVEL 0.10, CADD 14.50
- G6G (p.Gly6Gly), rs775847689, gnomAD 5-218373-C-T, CADD 1.89
- L7P (p.Leu7Pro), rs1734500083, ClinGen CA359007291, ClinVar RCV001216867, ClinVar RCV002418744, REVEL 0.09, CADD 21.70, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- L7V (p.Leu7Val), rs760964443, ClinGen CA359007289, ClinVar RCV001039293, ClinVar RCV004669196, AlphaMissense 0.07, MetaLR 0.10, Conflicting interpretations, Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency
- L7L (p.Leu7Leu), rs760964443, gnomAD 5-218374-C-T, AlphaMissense 0.07, MetaLR 0.10
- L7M (p.Leu7Met), gnomAD 5-218374-C-A, REVEL 0.07, CADD 6.12
- L7Q (p.Leu7Gln), gnomAD 5-218375-T-A, REVEL 0.05, CADD 21.30
- L7R (p.Leu7Arg), gnomAD 5-218375-T-G, REVEL 0.09, CADD 21.50
- S8* (p.Ser8Ter), rs878854631, ClinGen CA359007295, ClinVar RCV001993135, ClinVar RCV003303493, CADD 36.00, Pathogenic
- S8A (p.Ser8Ala), ExAC rs768328967, gnomAD rs768328967, Uncertain significance
- S8L (p.Ser8Leu), rs878854631, ClinGen CA359007298, ClinVar RCV001970237, ClinVar RCV003339859, REVEL 0.05, CADD 16.40, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- S8P (p.Ser8Pro), rs768328967, ClinGen CA3172687, ClinVar RCV001041680, ClinVar RCV004659303, REVEL 0.08, CADD 18.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Dystonia, early-onset, and/or spastic p
- S8W (p.Ser8Trp), rs878854631, ClinGen CA10582417, ClinVar RCV000228753, ClinVar RCV001762532, REVEL 0.24, CADD 20.50, Uncertain significance, Neurodegeneration with ataxia and late-onset optic atrophy; Mitochondrial comple
- S8S (p.Ser8Ser), rs1060505007, gnomAD 5-218379-G-C, CADD 7.09
- R9G (p.Arg9Gly), rs776218604, ClinGen CA359007301, ClinVar RCV000649459, ClinVar RCV003303065, REVEL 0.18, CADD 17.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- R9L (p.Arg9Leu), rs761508577, ClinGen CA3172689, ClinVar RCV001041332, ExAC rs761508577, REVEL 0.19, CADD 17.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraganglioma syndrome
- R9Q (p.Arg9Gln), rs761508577, ClinGen CA359007303, ClinVar RCV000691725, ExAC rs761508577, REVEL 0.07, CADD 17.40, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- R9W (p.Arg9Trp), rs776218604, ClinGen CA3172688, ClinVar RCV001225154, ClinVar RCV005732321, REVEL 0.10, CADD 20.60, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- R9R (p.Arg9Arg), rs776218604, gnomAD 5-218380-C-A, CADD 9.24
- R9P (p.Arg9Pro), gnomAD 5-218381-G-C, REVEL 0.38, CADD 21.60
- L10P (p.Leu10Pro), rs2126522536, ClinGen CA359007310, ClinVar RCV001901686, Ensembl rs2126522536, REVEL 0.45, CADD 23.00, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- L10V (p.Leu10Val), Ensembl rs879099314, Likely benign
- L10M (p.Leu10Met), gnomAD 5-218383-C-A, REVEL 0.24, CADD 16.90
- L10L (p.Leu10Leu), rs879099314, gnomAD 5-218383-C-T, CADD 10.10
- L11Q (p.Leu11Gln), rs1139422, ClinGen CA359007321, ClinVar RCV001054132, ClinVar RCV005480558, REVEL 0.17, CADD 18.90, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- L11R (p.Leu11Arg), rs1139422, ClinGen CA359007325, ClinVar RCV002454691, ClinVar RCV003775581, REVEL 0.38, CADD 19.10, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- L11M (p.Leu11Met), gnomAD 5-218386-C-A, REVEL 0.05, CADD 9.39
- L11L (p.Leu11Leu), gnomAD 5-218386-C-T, CADD 8.06
- L11P (p.Leu11Pro), gnomAD 5-218387-T-C, REVEL 0.32, CADD 19.60
- S12C (p.Ser12Cys), Ensembl rs1734501874, Uncertain significance
- S12G (p.Ser12Gly), rs1734501874, ClinGen CA359007330, ClinVar RCV001213050, ClinVar RCV002451462, REVEL 0.06, CADD 12.20, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- S12R (p.Ser12Arg), rs1734502045, ClinGen CA359007346, ClinVar RCV001036917, Ensembl rs1734502045, REVEL 0.09, CADD 6.36, Uncertain significance, Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency
- S12I (p.Ser12Ile), gnomAD 5-218390-G-T, REVEL 0.09, CADD 8.28
- S12N (p.Ser12Asn), gnomAD 5-218390-G-A, REVEL 0.04, CADD 7.25
- S12T (p.Ser12Thr), gnomAD 5-218390-G-C, REVEL 0.06, CADD 6.04
- S12S (p.Ser12Ser), rs1734502045, gnomAD 5-218391-C-T, CADD 7.47
- A13D (p.Ala13Asp), rs2477252136, ClinGen CA359007357, ClinVar RCV003801877, REVEL 0.14, CADD 4.13, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- A13T (p.Ala13Thr), rs2126522602, ClinGen CA359007356, ClinVar RCV003812454, Ensembl rs2126522602, REVEL 0.05, CADD 6.89, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- A13S (p.Ala13Ser), gnomAD 5-218392-G-T, REVEL 0.07, CADD 3.99
- A13P (p.Ala13Pro), gnomAD 5-218392-G-C, REVEL 0.16, CADD 8.97
- A13V (p.Ala13Val), gnomAD 5-218393-C-T, REVEL 0.05, CADD 5.66
- A13A (p.Ala13Ala), gnomAD 5-218394-T-A, CADD 7.59
- R14G (p.Arg14Gly), rs1192077362, ClinGen CA359007364, cosmic curated COSV53769, ClinVar RCV001248215, REVEL 0.22, CADD 16.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- R14P (p.Arg14Pro), rs2477252209, ClinGen CA359007369, ClinVar RCV003177573, ClinVar RCV003779565, REVEL 0.37, CADD 19.80, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- R14W (p.Arg14Trp), rs1192077362, ClinGen CA359007367, ClinVar RCV001221686, ClinVar RCV002322073, REVEL 0.27, CADD 23.50, Uncertain significance, Hereditary cancer-predisposing syndrome; Neurodegeneration with ataxia and late
- R14R (p.Arg14Arg), rs1192077362, gnomAD 5-218395-C-A, CADD 11.80
- R14Q (p.Arg14Gln), gnomAD 5-218396-G-A, REVEL 0.09, CADD 15.50
- R14L (p.Arg14Leu), gnomAD 5-218396-G-T, REVEL 0.22, CADD 15.60
- R15C (p.Arg15Cys), rs2126522654, ClinGen CA359007373, ClinVar RCV002333730, Ensembl rs2126522654, REVEL 0.20, CADD 19.60, Uncertain significance, Hereditary cancer-predisposing syndrome
- R15G (p.Arg15Gly), Ensembl rs2126522654, Uncertain significance
- R15H (p.Arg15His), rs1060503707, ClinGen CA359007379, ClinVar RCV002328688, ClinVar RCV003443035, REVEL 0.11, AlphaMissense 0.16, Conflicting interpretations, not provided; Hereditary cancer-predisposing syndrome
- R15L (p.Arg15Leu), rs1060503707, ClinGen CA359007376, ClinVar RCV002305344, REVEL 0.09, AlphaMissense 0.16, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- R15P (p.Arg15Pro), rs1060503707, ClinGen CA16611820, ClinVar RCV000470530, ClinVar RCV002255398, AlphaMissense 0.16, MetaLR 0.20, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- R15S (p.Arg15Ser), gnomAD 5-218398-C-A, REVEL 0.15, CADD 12.40
- R15R (p.Arg15Arg), gnomAD 5-218400-C-A, CADD 9.10
- L16L (p.Leu16Leu), rs1579369903, gnomAD 5-218401-C-T, CADD 8.19
- L16M (p.Leu16Met), gnomAD 5-218401-C-A, REVEL 0.05, CADD 13.20
- L16Q (p.Leu16Gln), gnomAD 5-218402-T-A, REVEL 0.14, CADD 18.90
- L16P (p.Leu16Pro), gnomAD 5-218402-T-C, REVEL 0.18, CADD 19.50
- L16R (p.Leu16Arg), gnomAD 5-218402-T-G, REVEL 0.17, CADD 19.10
- A17E (p.Ala17Glu), rs2126522709, ClinGen CA359007404, ClinVar RCV003792472, REVEL 0.28, CADD 16.50, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- A17S (p.Ala17Ser), rs2477252336, ClinGen CA359007393, ClinVar RCV003472616, ClinVar RCV004949097, REVEL 0.10, CADD 19.70, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Dilated cardiomyopathy 1GG
- A17T (p.Ala17Thr), rs2477252336, ClinGen CA359007400, ClinVar RCV002592748, ClinVar RCV005729767, REVEL 0.11, CADD 21.60, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- A17V (p.Ala17Val), Ensembl rs2126522709, REVEL 0.07, CADD 17.80, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- A17R (p.Ala17Arg), gnomAD 5-218402-TG-T, CADD 24.50
- A17G (p.Ala17Gly), gnomAD 5-218404-GC-G, CADD 24.80
- A17P (p.Ala17Pro), gnomAD 5-218404-G-C, REVEL 0.44, CADD 22.30
- A17A (p.Ala17Ala), rs764698195, gnomAD 5-218406-G-A, CADD 9.32
- L18M (p.Leu18Met), rs1553996372, ClinVar RCV004573567, REVEL 0.17, AlphaMissense 0.06, Uncertain significance, Dilated cardiomyopathy 1GG
- L18Q (p.Leu18Gln), rs2126522744, ClinGen CA359007422, ClinVar RCV002615182, Ensembl rs2126522744, REVEL 0.38, CADD 22.80, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- L18V (p.Leu18Val), rs1553996372, ClinGen CA359007420, ClinVar RCV000572314, ClinVar RCV001204645, AlphaMissense 0.06, MetaLR 0.39, Conflicting interpretations, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- L18P (p.Leu18Pro), rs1560980939, gnomAD 5-218395-C-CGGCGC, CADD 22.20
- L18W (p.Leu18Trp), gnomAD 5-218405-CG-C, CADD 21.60
- L18L (p.Leu18Leu), gnomAD 5-218407-C-T, CADD 9.66
- A19G (p.Ala19Gly), rs2126522773, ClinGen CA359007442, ClinVar RCV002030327, ClinVar RCV004043271, AlphaMissense 0.09, MetaLR 0.15, Conflicting interpretations, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- A19T (p.Ala19Thr), rs1560980986, ClinGen CA359007432, ClinVar RCV000696776, ClinVar RCV002343493, REVEL 0.03, CADD 8.71, Conflicting interpretations, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- A19P (p.Ala19Pro), gnomAD 5-218408-TG-T, CADD 23.00
- A19S (p.Ala19Ser), gnomAD 5-218410-G-T, REVEL 0.02, CADD 5.09
- A19D (p.Ala19Asp), gnomAD 5-218411-C-A, REVEL 0.08, CADD 13.10
- A19V (p.Ala19Val), gnomAD 5-218411-C-T, REVEL 0.06, CADD 12.80
- A19A (p.Ala19Ala), rs749948037, gnomAD 5-218412-C-G, CADD 8.04
- K20E (p.Lys20Glu), rs1734504263, ClinGen CA359007448, ClinVar RCV001298669, ClinVar RCV002357093, REVEL 0.06, CADD 3.10, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- K20N (p.Lys20Asn), rs1734504425, ClinGen CA359007464, ClinVar RCV002943742, ClinVar RCV003308370, REVEL 0.02, CADD 9.96, Likely benign, Hereditary cancer-predisposing syndrome
- K20R (p.Lys20Arg), Ensembl rs2126522796, REVEL 0.03, CADD 12.50
- K20* (p.Lys20Ter), gnomAD 5-218413-A-T, CADD 33.00
- K20K (p.Lys20Lys), rs1734504425, gnomAD 5-218415-G-A, CADD 6.90
- A21E (p.Ala21Glu), rs2126522821, ClinGen CA359007481, ClinVar RCV002005224, Ensembl rs2126522821, REVEL 0.14, CADD 4.01, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- A21G (p.Ala21Gly), Ensembl rs2126522821, REVEL 0.07, CADD 13.90, Uncertain significance
- A21T (p.Ala21Thr), rs1553996375, ClinGen CA359007466, ClinVar RCV000556549, ClinVar RCV004948447, REVEL 0.04, CADD 7.53, Conflicting interpretations, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- A21V (p.Ala21Val), rs2126522821, ClinGen CA359007483, ClinVar RCV001884830, ClinVar RCV005482968, REVEL 0.07, CADD 15.30, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- A21R (p.Ala21Arg), gnomAD 5-218414-AG-A, CADD 19.80
- A21S (p.Ala21Ser), gnomAD 5-218416-G-T, REVEL 0.05, CADD 4.44
- A21A (p.Ala21Ala), rs587781942, gnomAD 5-218418-G-T, CADD 22.30
- W22* (p.Trp22Ter), rs2126539382, ClinGen CA359008061, ClinVar RCV001946937, Ensembl rs2126539382, Pathogenic
- W22R (p.Trp22Arg), rs2126539375, ClinGen CA359008059, ClinVar RCV002033210, Ensembl rs2126539375, AlphaMissense 0.19, MetaLR 0.11, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- P23A (p.Pro23Ala), rs2477279891, ClinGen CA359008068, ClinVar RCV002369472, Uncertain significance, Hereditary cancer-predisposing syndrome
- P23L (p.Pro23Leu), rs376207983, ClinGen CA3172713, ClinVar RCV001025780, ClinVar RCV006556948, REVEL 0.18, CADD 21.30, Uncertain significance, Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency
- P23S (p.Pro23Ser), gnomAD 5-223485-C-T, REVEL 0.17, CADD 15.60
- P23P (p.Pro23Pro), gnomAD 5-223487-A-G, CADD 0.79
- T24A (p.Thr24Ala), rs1579379632, ClinGen CA359008073, ClinVar RCV000816218, ClinVar RCV003166352, REVEL 0.08, CADD 0.34, Conflicting interpretations, Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency
- T24I (p.Thr24Ile), TOPMed rs1196667387, gnomAD rs1196667387, REVEL 0.12, AlphaMissense 0.15
- T24R (p.Thr24Arg), rs1196667387, ClinGen CA359008077, ClinVar RCV003049788, ClinVar RCV004068737, AlphaMissense 0.15, MetaLR 0.13, Conflicting interpretations, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- V25A (p.Val25Ala), rs2126539437, ClinGen CA359008082, ClinVar RCV001965794, Ensembl rs2126539437, AlphaMissense 0.08, MetaLR 0.09, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- V25L (p.Val25Leu), gnomAD 5-223491-G-C, REVEL 0.18, CADD 0.32
- V25V (p.Val25Val), rs774378936, gnomAD 5-223493-G-C, CADD 0.14
- L26S (p.Leu26Ser), TOPMed rs1734829729, REVEL 0.06, CADD 0.70, Likely benign, Hereditary cancer-predisposing syndrome
- L26L (p.Leu26Leu), rs2126539463, gnomAD 5-223496-G-A, CADD 1.00
- Q27* (p.Gln27Ter), rs1734829878, ClinGen CA359008093, ClinVar RCV001385763, ClinVar RCV002420861, AlphaMissense 0.09, MetaLR 0.25, Pathogenic
- Q27E (p.Gln27Glu), rs1734829878, ClinGen CA359008092, ClinVar RCV001039324, Ensembl rs1734829878, REVEL 0.14, AlphaMissense 0.09, Uncertain significance, Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency
- Q27H (p.Gln27His), ExAC rs759523671, gnomAD rs759523671, REVEL 0.15, CADD 1.23, Likely benign
- Q27R (p.Gln27Arg), rs2477280077, ClinGen CA359008095, ClinVar RCV004516522, Likely benign, Hereditary cancer-predisposing syndrome
- Q27Q (p.Gln27Gln), rs759523671, gnomAD 5-223499-A-G, CADD 0.38
- T28I (p.Thr28Ile), rs1171584124, ClinGen CA359008101, ClinVar RCV001935291, ClinVar RCV005271487, REVEL 0.10, CADD 9.25, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- T28A (p.Thr28Ala), gnomAD 5-223500-A-G, REVEL 0.06, CADD 1.13
- G29E (p.Gly29Glu), rs1436200566, ClinGen CA359008107, ClinVar RCV000542539, ClinVar RCV001018205, REVEL 0.17, CADD 2.43, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- G29V (p.Gly29Val), TOPMed rs1436200566, gnomAD rs1436200566, Uncertain significance
- T30A (p.Thr30Ala), rs2126539529, ClinGen CA359008110, ClinVar RCV002040499, ClinVar RCV004671619, AlphaMissense 0.07, MetaLR 0.16, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- T30I (p.Thr30Ile), rs1560985157, ClinGen CA359008115, ClinVar RCV000699826, ClinVar RCV002369914, AlphaMissense 0.14, MetaLR 0.25, Conflicting interpretations, Dilated cardiomyopathy 1GG; Mitochondrial complex II deficiency, nuclear type 1
- T30T (p.Thr30Thr), gnomAD 5-223508-C-A, CADD 3.10
- R31* (p.Arg31Ter), rs142441643, ClinGen CA168793, cosmic curated COSV53768, ClinVar RCV000131808, CADD 34.00, Pathogenic
- R31Q (p.Arg31Gln), rs752532780, ClinGen CA3172716, ClinVar RCV000225880, ClinVar RCV000410721, REVEL 0.28, CADD 22.30, Conflicting interpretations, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- G32R (p.Gly32Arg), rs1734831542, ClinGen CA359008120, ClinVar RCV001318592, Ensembl rs1734831542, AlphaMissense 0.18, MetaLR 0.13, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- G32S (p.Gly32Ser), rs1734831542, ClinGen CA359008119, ClinVar RCV003278330, AlphaMissense 0.18, MetaLR 0.13, Likely benign, Hereditary cancer-predisposing syndrome
- G32V (p.Gly32Val), gnomAD rs1173329629, REVEL 0.04, CADD 10.10
- G32A (p.Gly32Ala), gnomAD 5-223513-G-C, REVEL 0.04, CADD 5.28
- F33L (p.Phe33Leu), rs1061518, ClinGen CA359008126, ClinVar RCV003802654, AlphaMissense 0.37, MetaLR 0.28, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- F33S (p.Phe33Ser), rs1734831975, ClinGen CA359008128, ClinVar RCV001218025, Ensembl rs1734831975, AlphaMissense 0.70, MetaLR 0.37, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- F33V (p.Phe33Val), rs1061518, cosmic curated COSV53766, UniProt VAR 049214, Ensembl rs1061518, AlphaMissense 0.37, MetaLR 0.28
- H34R (p.His34Arg), rs757478250, ClinGen CA3172717, ClinVar RCV001009716, ClinVar RCV001226605, REVEL 0.25, CADD 19.80, Uncertain significance, Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency
- H34Y (p.His34Tyr), gnomAD rs1395903862, REVEL 0.20, CADD 21.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- H34S (p.His34Ser), gnomAD 5-223513-G-GT, CADD 20.20
- F35L (p.Phe35Leu), ExAC rs765434536, gnomAD rs765434536, REVEL 0.13, CADD 19.70, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- T36A (p.Thr36Ala), rs750500173, ClinGen CA3172719, cosmic curated COSV53768, ClinVar RCV000218672, REVEL 0.10, CADD 11.30, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- T36I (p.Thr36Ile), rs1440814662, ClinGen CA359008161, cosmic curated COSV10459, ClinVar RCV000563141, REVEL 0.18, CADD 15.10, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- T36S (p.Thr36Ser), rs750500173, ClinGen CA359008157, ClinVar RCV000688361, ClinVar RCV001017190, REVEL 0.08, CADD 7.11, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Dilated cardiomyopathy 1GG; Mitochondri
- T36T (p.Thr36Thr), rs1301747916, gnomAD 5-223526-T-C, CADD 5.15
- V37I (p.Val37Ile), rs758426529, ClinGen CA3172720, ClinVar RCV000229719, ClinVar RCV000574162, REVEL 0.03, CADD 8.35, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- V37V (p.Val37Val), rs2126539712, gnomAD 5-223529-T-C, CADD 2.94
- D38E (p.Asp38Glu), rs1061519, ClinGen CA359008185, ClinVar RCV003803261, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- D38H (p.Asp38His), rs1553997174, ClinGen CA359008177, ClinVar RCV000649394, ClinVar RCV006277974, REVEL 0.03, CADD 16.90, Uncertain significance, Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- D38N (p.Asp38Asn), rs1553997174, ClinGen CA359008175, cosmic curated COSV10459, ClinVar RCV001929371, REVEL 0.04, CADD 16.80, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- D38V (p.Asp38Val), rs34635677, ClinGen CA358585, cosmic curated COSV53772, ClinVar RCV000210535, REVEL 0.08, CADD 18.70, Benign/Likely benign, Neurodegeneration with ataxia and late-onset optic atrophy; Mitochondrial comple
Public SDHA analysis runs
- SDHA analysis run — SDHA (1,844 variants) — completed 2026-08-21