POLG NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)

CI-VAR-00032120Explore in graph →p.Ala1033ValNM_002693.3:c.3098C>TClinVar 206470 rs551708243

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
206470	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Progressive sclerosing poliodystrophy; POLG-related disorder; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Inborn genetic diseases; Mitochondrial DNA depletion syndrome 4b; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 1; Malignant lymphoma, large B-cell, diffuse; Cervical cancer	germline	15	Jan 28, 2026	clinvar