VHL Q164H (c.492G>T)

CI-VAR-00003502Explore in graph →NP_000542.1:p.Gln164HisClinVar 456566 CIViC 2880 rs1352275281

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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 Disease2unmapped disease
VHL Q164H (c.492G>T)	(predisposing)	Predisposing	C	N/A N/A	3	rejected	EID7745 Patients presenting with juxtapapillary capillary retinal angioma in Germany were queried for the presence of VHL mutations. this patient was diagnosed at 14 with a c.492G>T VHL mutation and a juxtapa… (full text at CIViC) PMID 17398248 · Ballaz et al., 2007 · Open in CIViC	civic
VHL Q164H (c.492G>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID7747 Patients presenting with juxtapapillary capillary retinal angioma in Germany were queried for the presence of VHL mutations. this patient was diagnosed at 14 with a c.492G>T VHL mutation and a juxtapa… (full text at CIViC) PMID 17392848 · Kreusel et al., 2007 · 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
456566	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome	germline	4	Jan 13, 2025	clinvar