VHL W88C (c.264G>C)

CI-VAR-00004717Explore in graph →NP_000542.1:p.Trp88CysNM_000551.3:c.264G>CClinVar 580847 CIViC 2124 rs869025622

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 W88C (c.264G>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5717 A cohort of 141 patients with hemangioblastomas of the central nervous system was analyzed. 81 patients had germline mutations in the VHL gene. This missense mutation was found in one patient with hem… (full text at CIViC) PMID 10567493 · Gläsker et al., 1999 · Open in CIViC	civic
VHL W88C (c.264G>C)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID9661 41 non-related patients with retinal angiomatosis presenting in the Benjamin Franklin University Eye Clinic between 1988 to 1999 Germany were evaluated for the presence of other VHL lesions. VHL disea… (full text at CIViC) PMID 11148816 · Kreusel et al., 2000 · 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
580847	Pathogenic	criteria provided, single submitter	1	Chuvash polycythemia; Von Hippel-Lindau syndrome	germline	1	Aug 09, 2025	clinvar