VHL R120G (c.358A>G)

CI-VAR-00003632Explore in graph →NP_000542.1:p.Arg120GlyNM_000551.3:c.358A>GClinVar 223199 CIViC 1914 rs869025642

Curated evidence

Evidence by cancer (6 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 1–6 of 6 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 Disease6unmapped disease
VHL R120G (c.358A>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5178 In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 18 novel variants were identified in VHL patients, but none were present in 200 unaffected control in… (full text at CIViC) PMID 21463266 · Leonardi et al., 2011 · Open in CIViC	civic
VHL R120G (c.358A>G)	(predisposing)	Predisposing	C	Supports Predisposition	4	submitted	EID5756 This study reports 1,548 germline and somatic mutations from 945 VHL families. This novel mutation was found in 2 VHL patients with hemangioblastomas of the central nervous system and pheochromocytoma… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · 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
223199	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	6	Jun 08, 2021	clinvar