VHL Q132* (c.394C>T)

CI-VAR-00003480Explore in graph →NP_000542.1:p.Gln132TerNM_000551.3:c.394C>TClinVar 288749 CIViC 1994 rs5030813

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 Q132* (c.394C>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5358 Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in a German, VHL type 1 patient with retinal angiomas, hemangioblastomas of the cen… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC	civic
VHL Q132* (c.394C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5384 A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. o Renal cell carcinoma occurred predominantly in n… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · 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
288749	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	4	Mar 19, 2025	clinvar