VHL Q145* (c.433C>T)

CI-VAR-00003490Explore in graph →NP_000542.1:p.Gln145TerNM_000551.3:c.433C>TClinVar 625249 CIViC 1883 rs749704215

Curated evidence

Evidence by cancer (7 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 1–7 of 7 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 Disease7unmapped disease
VHL Q145* (c.433C>T)	(predisposing)	Predisposing	C	Supports Predisposition	4	submitted	EID5132 Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amin… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC	civic
VHL Q145* (c.433C>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5248 Germline mutation analysis of seven east-Chinese families revealed 6 mutations. This nonsense mutation was found in two separate families. One female VHL type 1 patient with hemangioblastomas of the c… (full text at CIViC) PMID 21972040 · Huang et al., 2012 · 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
625249	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	2	Jul 31, 2025	clinvar