VHL P97= (c.291C>G)

CI-VAR-00003435Explore in graph →NP_000542.1:p.Pro97=NM_000551.3:c.291C>GClinVar 526692 CIViC 2128 rs1805159

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 P97= (c.291C>G)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID5723 This study reports a novel mutation in a 51 year old female with VHL disease. This silent mutation was found in one unaffected patient, identified after screening 55 individuals. PMID 10862095 · Moore et al., 2000 · 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
526692	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome	germline	4	Jun 10, 2025	clinvar