VHL E94K (c.280G>A)

CI-VAR-00000868Explore in graph →NP_000542.1:p.Glu94LysNM_000551.3:c.280G>AClinVar 135955 CIViC 2173 rs5030829

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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 Disease2unmapped disease
VHL E94K (c.280G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5843 A study describing phenotypic and genotypic characteristics of VHL in an Indian population of 31 subjects, from 15 families diagnosed with VHL. Multi-cystic pancreas lesions and CNS hemangioblastomas … (full text at CIViC) PMID 25952756 · Vikkath et al., 2015 · Open in CIViC	civic
VHL E94K (c.280G>A)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8616 Germline sequencing of the VHL gene was performed on patients who presented with VHL syndromic hemangioblastomas, and germline results were compared to sequencing results from matched tumor tissue sam… (full text at CIViC) PMID 29813026 · Vikkath et al., 2018 · Open in CIViC	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
135955	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome	germline	3	May 13, 2026	clinvar