VHL G93C (c.277G>T)

CI-VAR-00001849Explore in graph →NP_000542.1:p.Gly93CysNM_000551.3:c.277G>TClinVar 223175 CIViC 2008 rs5030808

Curated evidence

Evidence by cancer (5 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 1–5 of 5 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 Disease5unmapped disease
VHL G93C (c.277G>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5406 Peripheral blood from unrelated patients with pheochromocytoma was tested for mutations of proto-oncogene RET, tumor suppressor gene VHL, succinate dehydrogenase subunit D (SDHD) gene, and the succina… (full text at CIViC) PMID 12000816 · Neumann et al., 2002 · Open in CIViC	civic
VHL G93C (c.277G>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6563 A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of tumours for specific mutations present… (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · 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
223175	Pathogenic	no assertion criteria provided	0	Von Hippel-Lindau syndrome	germline	1	Feb 26, 2016	clinvar