VHL E12D (c.36G>C)

CI-VAR-00000660Explore in graph →NP_000542.1:p.Glu12AspNM_000551.3:c.36G>CClinVar 419711 CIViC 1694 rs973493604

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 E12D (c.36G>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID4878 In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 18 novel variants were identified in VHL patients, but none were present in 200 unaffected control in… (full text at CIViC) PMID 21463266 · Leonardi et al., 2011 · 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
419711	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Nonpapillary renal cell carcinoma; Pheochromocytoma	germline	4	Jan 13, 2026	clinvar