OPA1 NM_130837.3(OPA1):c.2873_2876del

CI-VAR-00005454Explore in graph →NM_130837.3:c.2873_2876delClinVar 5082 rs80356530

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
5082	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Autosomal dominant optic atrophy classic form; Abortive cerebellar ataxia; Mitochondrial disease; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type); Glaucoma, normal tension, susceptibility to; Tip-toe gait; OPA1-related disorder; 3-Methylglutaconic aciduria type 3; Optic atrophy; Inborn genetic diseases; Papillary renal cell carcinoma type 1; Retinal disorder; Optic neuropathy; Possible mitochondrial disorder - nuclear genes	germline	40	May 18, 2026	clinvar