POLG NM_002693.3(POLG):c.830A>T (p.His277Leu)

CI-VAR-00032121Explore in graph →p.His277LeuNM_002693.3:c.830A>TClinVar 206583 rs138929605

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
206583	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome; Mitochondrial DNA depletion syndrome 4b; Hereditary spastic paraplegia; Tip-toe gait; Inborn genetic diseases; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Sarcoma; Lung cancer	germline	21	Aug 17, 2026	clinvar