VHL P154S (c.460C>T)

CI-VAR-00003295Explore in graph →NP_000542.1:p.Pro154SerClinVar 486714 CIViC 2427 rs1553619993

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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 Disease4unmapped disease
VHL P154S (c.460C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6489 A 65Y male patient of Japanese ethnicity presented with hypertension, pheochromocytoma, and bilateral adrenal tumors. A mutation c.460C>T (p.Pro154Ser) was confirmed in the VHL gene. His 35Y son had … (full text at CIViC) PMID 16595991 · Takahashi et al., 2006 · Open in CIViC	civic
VHL P154S (c.460C>T)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8730 202 pheochromocytomas/paragangliomas, including 75 hereditary tumors, were analyzed using expression profiling, BAC array comparative genomic hybridization and somatic mutation screening. The authors … (full text at CIViC) PMID 21784903 · Burnichon et al., 2011 · 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
486714	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau syndrome	germline	5	Aug 24, 2025	clinvar