PNPLA6 NM_001166114.2(PNPLA6):c.3816+1G>A

CI-VAR-00071698Explore in graph →NM_001166114.2:c.3816+1G>AClinVar 445982 rs1490826010

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
445982	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary spastic paraplegia 39; Sarcoma; PNPLA6-related disorder	germline	4	Jan 15, 2026	clinvar