Variant · Snv

VHL L163P (c.488T>C)

CI-VAR-00002266Explore in graph →NP_000542.1:p.Leu163ProNM_000551.3:c.488T>CClinVar 2231 CIViC 2478 rs28940297

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL L163P (c.488T>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6688 Kaplan-Meier plot and Cox regression model were used to evaluate the median survival and assess how survival was influenced by birth year, birth order, sex, family history, mutation type, onset age an… (full text at CIViC) PMID 29330336 · Wang et al., 2018 · Open in CIViC	civic
VHL L163P (c.488T>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID8636 Germline VHL mutations were found in all Korean patients who fulfilled clinical criteria for VHL disease. No mutation of VHL was detected in other patients who did not meet clinical criteria. In all c… (full text at CIViC) PMID 19270817 · Cho et al., 2009 · 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
2231	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS; Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome	germline	4	Jun 09, 2026	clinvar