Variant · Snv

VHL E52* (c.154G>T)

CI-VAR-00000763Explore in graph →NP_000542.1:p.Glu52TerNM_000551.3:c.154G>TClinVar 182982 CIViC 2466 rs373068386

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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 Disease4unmapped disease
VHL E52* (c.154G>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6648 DNA samples extracted from the blood of patients with idiopathic erythrocytosis were acquired from four separate idiopathic erythrocytosis databases (UK, Portugal, Germany and The Netherlands). Geneti… (full text at CIViC) PMID 27651169 · Camps et al., 2016 · Open in CIViC	civic
VHL E52* (c.154G>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10739 Targeted sequencing of 164 genes was performed on germline and somatic DNA derived from the blood and tissue samples of 50 Saudi Arabia breast cancer patients. From sample BCB-D-59, 3 germline mutatio… (full text at CIViC) PMID 32994724 · Alanazi et al., 2020 · 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
182982	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome; Pheochromocytoma; Nonpapillary renal cell carcinoma; Diffuse midline glioma, H3 K27-altered	germline	14	Sep 09, 2026