Variant · Snv

VHL P59S (c.175C>T)

CI-VAR-00003369Explore in graph →NP_000542.1:p.Pro59SerNM_000551.3:c.175C>TClinVar 231233 CIViC 1930 rs876659041

Curated evidence

Evidence by cancer (2 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.

civicCuratedShowing 1–2 of 2 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Von Hippel-Lindau Disease2unmapped disease
VHL P59S (c.175C>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5207 In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 18 novel variants were identified in VHL patients, but none were present in 200 unaffected control in… (full text at CIViC) PMID 21463266 · Leonardi et al., 2011 · Open in CIViC	civic
VHL P59S (c.175C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10709 The P59S (c.175C>T) germline variant of the VHL gene was found in a patient presenting with pheochromocytoma. Transmission of the variant could not be determined since family history was not available… (full text at CIViC) PMID 32179488 · Faiyaz-Ul-Haque et al., 2020 · Open in CIViC

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
231233	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	2	May 18, 2026	clinvar