Variant · Snv

VHL F136C (c.407T>G)

CI-VAR-00001078Explore in graph →NP_000542.1:p.Phe136CysNM_000551.3:c.407T>GClinVar 496065 CIViC 1814 rs5030833

Curated evidence

Evidence by cancer (8 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 1–8 of 8 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 Disease8unmapped disease
VHL F136C (c.407T>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID4993 Tissue analysis from 61 VHL patients revealed 22 variants within VHL gene open reading frame. All mutations cluster to the 3’ end of the VHL gene open reading frame, implicating this region as importa… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · Open in CIViC	civic
VHL F136C (c.407T>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5412 Peripheral blood from unrelated patients with pheochromocytoma was tested for mutations of proto-oncogene RET, tumor suppressor gene VHL, succinate dehydrogenase subunit D (SDHD) gene, and the succina… (full text at CIViC) PMID 12000816 · Neumann et al., 2002 · 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
496065	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	4	Jan 26, 2026	clinvar