Variant · Snv

VHL R107G (c.319C>G)

CI-VAR-00003611Explore in graph →NP_000542.1:p.Arg107GlyNM_000551.3:c.319C>GClinVar 43599 CIViC 2007 rs397516440

Curated evidence

Evidence by cancer (5 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 1–5 of 5 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 Disease5unmapped disease
VHL R107G (c.319C>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5399 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	civic
VHL R107G (c.319C>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5523 Nine Chinese index patients were referred for the molecular analysis of VHL based on clinical suspicion. One patient was found to harbor the above mutation. Clinical manifestations included CNS hemang… (full text at CIViC) PMID 21362373 · Siu et al., 2011 · 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
43599	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Pheochromocytoma; Chuvash polycythemia; Nonpapillary renal cell carcinoma; Hereditary cancer-predisposing syndrome	germline	3	Jun 09, 2026	clinvar