VHL E46* (c.136G>T)

CI-VAR-00000755Explore in graph →NP_000542.1:p.Glu46TerNM_000551.3:c.136G>TCIViC 1733

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 E46* (c.136G>T)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID4895 A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeare… (full text at CIViC) PMID 12202531 · Dollfus et al., 2002 · Open in CIViC	civic
VHL E46* (c.136G>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10424 Molecular and clinical analysis of 126 French VHL families tested for renal involvement revealed 92 different mutations. 90 of these families had renal involvement. The p.E46* (c.136G>T) germline vari… (full text at CIViC) PMID 15300849 · Gallou et al., 2004 · 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.