VHL R107P (c.320G>C)

CI-VAR-00003613Explore in graph →NP_000542.1:p.Arg107ProNM_000551.3:c.320G>CClinVar 36900 CIViC 1840 rs193922609

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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 Disease2unmapped disease
VHL R107P (c.320G>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5042 Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mutations predicted to inactivate the VHL protein were associated with renal cell carcinoma and hemang… (full text at CIViC) PMID 9829911 · Stolle et al., 1998 · Open in CIViC	civic
VHL R107P (c.320G>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5552 Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutation was found in a VHL type 1 patient with hemangioblastomas of the central nervous system (VHL famil… (full text at CIViC) PMID 12624160 · Rocha et al., 2003 · 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
36900	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia	germline	5	Jan 08, 2026	clinvar