VHL Y98H (c.292T>C)

CI-VAR-00004869Explore in graph →NP_000542.1:p.Tyr98HisNM_000551.3:c.292T>CClinVar 2223 CIViC 1741 rs5030809

Curated evidence

Evidence by cancer (43 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 1–43 of 43 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 Disease43unmapped disease
VHL Y98H (c.292T>C)	(predisposing)	Predisposing	B	Supports Predisposition	4	accepted	EID7645 Peripheral blood from 116 VHL-affected patients in an interrelated group of 14 German and 2 American families with common ancestry was tested for mutations of the VHL gene. In most familial cases, one… (full text at CIViC) PMID 7759077 · Brauch et al., 1995 · Open in CIViC	civic
VHL Y98H (c.292T>C)	(predisposing)	Predisposing	B	Supports Predisposition	3	rejected	EID7876 36 VHL-related pheochromocytomas (from 21 patients) and 10 VHL-related CNS hemangioblastomas (from 6 patients) were studied using comparative genomic hybridization (CGH) to detect genetic imbalances. … (full text at CIViC) PMID 11850829 · Lui et al., 2002 · 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
2223	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; VHL-related disorder	germline	17	Oct 07, 2025	clinvar