VHL E55= (c.165G>A)

CI-VAR-00000788Explore in graph →NP_000542.1:p.Glu55=NM_000551.2:c.165G>AClinVar 486721 CIViC 794 rs1553619391

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL E55= (c.165G>A)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID1858 c.165G>A results in synonymous change Glu55Glu. This is family V5 in the paper (VHL Type 1, no phechromocytoma). PMID 9829912 · Olschwang et al., 1998 · 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
486721	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau syndrome	germline	5	Aug 03, 2025	clinvar