VHL E70* (c.208G>T)

CI-VAR-00000809Explore in graph →NP_000542.1:p.Glu70TerNM_000551.3:c.208G>TClinVar 428806 CIViC 1834 rs5030802

Curated evidence

Evidence by cancer (6 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 1–6 of 6 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 Disease6unmapped disease
VHL E70* (c.208G>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5035 Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mutations predicted to inactivate the VHL protein were associated with renal cell carcinoma and hemang… (full text at CIViC) PMID 9829911 · Stolle et al., 1998 · Open in CIViC	civic
VHL E70* (c.208G>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5361 Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in a Filipino, VHL type 1 patient with hemangioblastomas of the central nervous sys… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · 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
428806	Pathogenic	reviewed by expert panel	3	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome	germline	4	Jun 25, 2024	clinvar