VHL R177* (c.529A>T)

CI-VAR-00003730Explore in graph →NP_000542.1:p.Arg177TerNM_000551.3:c.529A>TClinVar 625258 CIViC 1827 rs1559429717

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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
Renal Cell Carcinoma2
VHL R177* (c.529A>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5025 Genotype-phenotype correlations of 573 VHL patients from 200 kindreds were analyzed. Age-related risks of retinal angiomas and renal cell carcinoma were higher in patients with nonsense or frameshift … (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC	civic
VHL R177* (c.529A>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6013 Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · Open in CIViC	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
625258	Pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome	germline	1	Aug 01, 2018	clinvar

Von Hippel-Lindau Disease2unmapped disease
VHL R177* (c.529A>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5014 In a study of 138 unrelated VHL families, 109 germline mutations were found. Missense mutations were more frequently found in families with pheochromocytoma (PC). Deletions. Nonsense, and frameshift m… (full text at CIViC) PMID 8730290 · Maher et al., 1996 · Open in CIViC	civic
VHL R177* (c.529A>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5331 14 Chinese patients from 10 VHL Type I families were diagnosed with Von Hippel-Lindau disease based on clinical criteria. Germline mutations were identified in 7/10 families. In all 14 patients, the f… (full text at CIViC) PMID 20518900 · Zhou et al., 2010 · Open in CIViC	civic