Variant · Snv

VHL L188V (c.562C>G)

CI-VAR-00002289Explore in graph →NP_000542.1:p.Leu188ValNM_000551.3:c.562C>GClinVar 2225 CIViC 1836 rs5030824

Curated evidence

Evidence by cancer (16 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 1–16 of 16 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
Von Hippel-Lindau Disease15unmapped disease
VHL L188V (c.562C>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5038 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 L188V (c.562C>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	rejected	EID5367 Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in 2 unrelated, VHL type 2 families of 9 individuals altogether (family VHL 37, VHL… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · 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
2225	Uncertain significance	reviewed by expert panel	3	Von Hippel-Lindau syndrome; Pheochromocytoma; Chuvash polycythemia; Hereditary cancer-predisposing syndrome; Au-Kline syndrome; VHL-related disorder; Inherited phaeochromocytoma and paraganglioma excluding NF1	germline	23	Jun 25, 2024