VHL Y175* (c.525C>G)

CI-VAR-00004768Explore in graph →NP_000542.1:p.Tyr175TerNM_000551.3:c.525C>GClinVar 182974 CIViC 1969 rs5030835

Curated evidence

Evidence by cancer (9 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 1–9 of 9 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 Disease9unmapped disease
VHL Y175* (c.525C>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5300 Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation was found in a VHL type 1 patient (patient no. V63). This study … (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC	civic
VHL Y175* (c.525C>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5440 43 unrelated VHL patients with previously sequenced VHL germline mutations and 36 suspected VHL mutation carriers were subject to denaturing high performance liquid chromatography (DHPLC) mutation scr… (full text at CIViC) PMID 11409863 · Klein et al., 2001 · 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
182974	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	2	Jan 26, 2025	clinvar