DGUOK NM_080916.3(DGUOK):c.591G>A (p.Gln197=)

CI-VAR-00033307Explore in graph →p.Gln197=NM_080916.3:c.591G>AClinVar 214286 rs748597500

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
214286	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Portal hypertension, noncirrhotic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; DGUOK-related disorder; Portal hypertension, noncirrhotic, 1; Lung cancer	germline	9	Nov 26, 2025	clinvar