PNPT1 NM_033109.5(PNPT1):c.1390C>A (p.Arg464=)

CI-VAR-00022504Explore in graph →p.Arg464=NM_033109.5:c.1390C>AClinVar 138737 rs2627765

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
138737	Benign	criteria provided, multiple submitters, no conflicts	2	Combined oxidative phosphorylation defect type 13; Autosomal recessive nonsyndromic hearing loss 70; Germ cell tumor of testis	germline	7	Feb 04, 2026	clinvar