Dilated cardiomyopathy 1GG: genes and variants
Dilated cardiomyopathy 1GG is linked to 1 analyzed protein (SDHA). 3 DNA variants are known to cause it; 130 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Dilated cardiomyopathy 1GG
SDHA: Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
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.
3 disease-causing and 130 uncertain variants in SDHA are linked to Dilated cardiomyopathy 1GG.
Known disease-causing variants in Dilated cardiomyopathy 1GG
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SDHA R585W | 585 | Disease-causing (★★) | |
| SDHA M1R | 1 | Disease-causing (★★) | |
| SDHA M1T | 1 | Disease-causing (★★) |
Same protein, different disease
- Mitochondrial complex II deficiency, nuclear type 1 is also caused by SDHA variants; they fall mostly in different places as the Dilated cardiomyopathy 1GG variants (18 disease-causing).
- Pheochromocytoma/paraganglioma syndrome 5 is also caused by SDHA variants; they fall mostly in different places as the Dilated cardiomyopathy 1GG variants (14 disease-causing).
- Neurodegeneration with ataxia and late-onset optic atrophy is also caused by SDHA variants; they fall mostly in different places as the Dilated cardiomyopathy 1GG variants (5 disease-causing).
Diseases related to Dilated cardiomyopathy 1GG
- Gastrointestinal stromal tumor, also linked to SDHA
- Pheochromocytoma/paraganglioma syndrome 5, also linked to SDHA
- Mitochondrial complex II deficiency, nuclear type 1, also linked to SDHA
- Inherited phaeochromocytoma and paraganglioma excluding NF1, also linked to SDHA
- Hereditary pheochromocytoma and paraganglioma, also linked to SDHA
- Neurodegeneration with ataxia and late-onset optic atrophy, also linked to SDHA
- Familial isolated dilated cardiomyopathy, also linked to SDHA
Frequently asked questions
Which genes are linked to Dilated cardiomyopathy 1GG?
In CATVariant, Dilated cardiomyopathy 1GG is linked to 1 analyzed protein: SDHA (Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial).
How many genetic variants are linked to Dilated cardiomyopathy 1GG?
139 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 130 are of uncertain significance or have conflicting reports.
Which uncertain variants in Dilated cardiomyopathy 1GG look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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