VHL L178Q (c.533T>A)

CI-VAR-00002280Explore in graph →NP_000542.1:p.Leu178GlnNM_000551.3:c.533T>AClinVar 625260 CIViC 1997 rs5030822

Curated evidence

Evidence by cancer (11 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 1–11 of 11 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 Disease11unmapped disease
VHL L178Q (c.533T>A)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5366 Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in 2 German, VHL type 2 family members with retinal angiomas, hemangioblastomas of … (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC	civic
VHL L178Q (c.533T>A)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5696 This paper analyzed the VHL gene of 21 patients who had clinical a clinical diagnosis of VHL, familial pheochromocytoma, or sporadic pheochromocytoma. 7 patients were from 3 families, while the remain… (full text at CIViC) PMID 23397066 · Ebenazer et al., 2013 · 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
625260	Pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome	germline	1	Aug 01, 2018	clinvar