VHL G93V (c.278G>T)

CI-VAR-00001853Explore in graph →NP_000542.1:p.Gly93ValNM_000551.3:c.278G>TClinVar 625232 CIViC 2009 rs1553619440

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL G93V (c.278G>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5408 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 G93V (c.278G>T)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8213 41 non-related patients with retinal angiomatosis presenting in the Benjamin Franklin University Eye Clinic between 1988 to 1999 Germany were evaluated for the presence of other VHL lesions. VHL disea… (full text at CIViC) PMID 11148816 · Kreusel et al., 2000 · 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
625232	Uncertain significance	criteria provided, single submitter	1	Von Hippel-Lindau syndrome	germline	1	Aug 01, 2018	clinvar