VHL P86L (c.257C>T)

CI-VAR-00003420Explore in graph →NP_000542.1:p.Pro86LeuNM_000551.3:c.257C>TClinVar 182977 CIViC 1760 rs730882034

Curated evidence

Evidence by cancer (20 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 1–20 of 20 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 Disease20unmapped disease
VHL P86L (c.257C>T)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID4926 In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. The p… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC	civic
VHL P86L (c.257C>T)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID5157 Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amin… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · 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
182977	Pathogenic	reviewed by expert panel	3	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia	germline	6	Jun 25, 2024	clinvar