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Recognized gene
SDHA
Normalized c.HGVS
c.101A>G, c.1037C>G, c.1090G>A, c.1099C>G, c.1216G>A and 44 more
Normalized p.HGVS
p.(Ala146Val), p.(Ala584Thr), p.(Arg232His), p.(Arg554Leu), p.(Arg5Gln) and 44 more
Matching records
525
PM3-positive records
21
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| SDHA |
NM_004168.4:c.1786G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.1754G>A; P.Arg585Gln; p.Arg585Gln
context: Confirmed in trans
|
40496653
High Succinate peak in Magnetic Resonance Spectroscopy: A Diagnostic Clue for the Leukoencephalopathy Result from Succinate Dehydrogenase Deficiencies.
Iranian journal of child neurology, 2025
|
Main article | |
| SDHA |
NM_004168.4:c.1360G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1216G>A; p.A406T
context: Compound heterozygous candidate
|
39061714
Liquid Biopsies in Follicular Thyroid Carcinomas-A Brief Report.
Diagnostics (Basel, Switzerland), 2024
|
Main article | |
| SDHA |
NM_004168.4:c.1115C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.14A>G; p.D5G
context: Compound heterozygous candidate
|
38473309
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Cancers, 2024
|
Supplementary material | |
| SDHA |
NM_004168.4:c.1246A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1794+1G>A
context: Compound heterozygous candidate
|
38473309
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Cancers, 2024
|
Main article | |
| SDHA |
NM_004168.4:c.287C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.L51M
context: Compound heterozygous candidate
|
38473309
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Cancers, 2024
|
Supplementary material | |
| SDHA |
NM_004168.4:c.724G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.994C>G; p.Pro332Ala
context: Compound heterozygous candidate
|
38473309
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Cancers, 2024
|
Supplementary material | |
| SDHA |
NM_004168.4:c.1337T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
37312221
Var∣Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing data.
Epigenetics & chromatin, 2023
|
Main article | |
| SDHA |
NM_004168.4:c.1526C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with Thr508Ile
context: Compound heterozygous candidate
|
37098072
Structure of the human respiratory complex II.
Proceedings of the National Academy of Sciences of the United States of America, 2023
|
Main article | |
| SDHA |
NM_004168.4:c.1535G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1753C > T; p.Arg585Trp
context: Compound heterozygous candidate
|
36183138
Cognitive functioning and mental health in children with a primary mitochondrial disease.
Orphanet journal of rare diseases, 2022
|
Main article | |
| SDHA |
NM_004168.4:c.512G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.511C>T; Arg171Cys
context: Compound heterozygous candidate
|
35059314
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor.
Frontiers in oncology, 2022
|
Main article | |
| SDHA |
NM_004168.4:c.698G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1351C>T; Arg171Cys; Arg451Cys; +5 more
context: Compound heterozygous candidate
|
35059314
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor.
Frontiers in oncology, 2022
|
Main article | |
| SDHA |
NM_004168.4:c.1526C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1523C>T; p.Thr508Ile
context: Compound heterozygous candidate
|
33960148
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Molecular genetics & genomic medicine, 2021
|
Main article | |
| SDHA |
NM_004168.4:c.1526C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with T508I
context: Compound heterozygous candidate
|
33238568
Human Mitochondrial Pathologies of the Respiratory Chain and ATP Synthase: Contributions from Studies of Saccharomyces cerevisiae.
Life (Basel, Switzerland), 2020
|
Main article | |
| SDHA |
NM_004168.4:c.1526C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1523C>T; p.(Thr508Ile)
context: Compound heterozygous candidate
|
33162331
The genetic basis of isolated mitochondrial complex II deficiency.
Molecular genetics and metabolism, 2020
|
Main article | |
| SDHA |
NM_004168.4:c.107C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with 475G>A; A159T
context: Compound heterozygous candidate
|
32099073
Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases.
Scientific reports, 2020
|
Supplementary material | |
| SDHA |
NM_004168.4:c.512G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
30616628
Preferential MGMT methylation could predispose a subset of KIT/PDGFRA-WT GISTs, including SDH-deficient ones, to respond to alkylating agents.
Clinical epigenetics, 2019
|
Main article | |
| SDHA |
NM_004168.4:c.800C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.160C>T; p.Gln54*
context: Compound heterozygous candidate
|
28546994
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
Molecular genetics & genomic medicine, 2017
|
Supplementary material | |
| SDHA |
NM_004168.4:c.1357G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.818C > T; p.T2731I
context: Compound heterozygous candidate
|
23730622
Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors.
Frontiers in oncology, 2013
|
Main article | |
| SDHA |
NM_004168.4:c.1357G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.818C>T; p.Thr2731Ile
context: Compound heterozygous candidate
|
23109135
Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.
Genes, chromosomes & cancer, 2013
|
Main article | |
| SDHA |
NM_004168.4:c.1522A>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with c.1526C>T; p.Ser509Leu
context: Confirmed in trans
|
22972948
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
Journal of medical genetics, 2012
|
Main article | |