SDHA NM_004168.4(SDHA):c.688del (p.Glu230fs)

CI-VAR-00074494Explore in graph →p.Glu230fsNM_004168.4:c.688delClinVar 472291 rs1553998199

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
472291	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paraganglioma syndrome 5; Hereditary cancer-predisposing syndrome; Dilated cardiomyopathy 1GG; Neurodegeneration with ataxia and late-onset optic atrophy; SDHA-related disorder	germline	10	Dec 29, 2025	clinvar