Variant · Snv

VHL E70K (c.208G>A)

CI-VAR-00000819Explore in graph →NP_000542.1:p.Glu70LysNM_000551.3:c.208G>AClinVar 43598 CIViC 1956 rs5030802

Curated evidence

Evidence by cancer (15 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 1–15 of 15 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 Disease15unmapped disease
VHL E70K (c.208G>A)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5273 Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V374). T… (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC	civic
VHL E70K (c.208G>A)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5780 In the analysis of 63 clinically diagnosed VHL patients, 55 patients were found with pancreatic involvement. Genetic tests on 35 of 55 VHL patients revealed VHL variants in 28 patients. Of the 55 enro… (full text at CIViC) PMID 25562111 · Park et al., 2015 · 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
43598	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Nonpapillary renal cell carcinoma; Pheochromocytoma	germline	9	Jul 27, 2025	clinvar