VHL E173* (c.517G>T)

CI-VAR-00000674Explore in graph →NP_000542.1:p.Glu173TerNM_000551.3:c.517G>TCIViC 1976

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL E173* (c.517G>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5315 43 Italian patients were molecularly analyzed for Von Hippel-Lindau disease based on clinical suspicion. 1 of the 43 patients was found to have the above mutation. Clinical manifestations associated w… (full text at CIViC) PMID 19464396 · Ciotti et al., 2009 · Open in CIViC	civic
VHL E173* (c.517G>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5672 In a report of 3 novel VHL mutations in VHL Italian families, this nonsense mutation was found in a family of 4 individuals (family V3CH). Three family members had retinal angiomas, one had hemangiobl… (full text at CIViC) PMID 9452106 · Mandich et al., 1998 · Open in CIViC

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.