VHL L169P (c.506T>C)

CI-VAR-00002272Explore in graph →NP_000542.1:p.Leu169ProNM_000551.3:c.506T>CClinVar 428809 CIViC 1887 rs1131690962

Curated evidence

Evidence by cancer (4 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 1–4 of 4 evidence items across 2 cancer contexts 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
Clear Cell Renal Cell Carcinoma1
VHL L169P (c.506T>C)	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	submitted	EID6164 This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC	civic
Von Hippel-Lindau Disease3unmapped disease
VHL L169P (c.506T>C)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID5147 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)

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
428809	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	3	Jun 06, 2025	clinvar