VHL L188P (c.563T>C)

CI-VAR-00002286Explore in graph →NP_000542.1:p.Leu188ProNM_000551.3:c.563T>CClinVar 625266 CIViC 1852 rs1559429824

Curated evidence

Evidence by cancer (7 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 1–7 of 7 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 Disease7unmapped disease
VHL L188P (c.563T>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5066 Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mutations predicted to inactivate the VHL protein were associated with renal cell carcinoma and hemang… (full text at CIViC) PMID 9829911 · Stolle et al., 1998 · Open in CIViC	civic
VHL L188P (c.563T>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5282 Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V269). F… (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · 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
625266	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	3	Feb 25, 2022	clinvar