VHL R120* (c.358A>T)

CI-VAR-00003630Explore in graph →CIViC 2877

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 R120* (c.358A>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID7741 Clinical case report of a 32-year-old male presenting with hematuria. A germline de novo nonsense mutation was confirmed on exon 3 of the VHL gene. The man also presented with multiple renal cysts; re… (full text at CIViC) PMID 25159823 · Fisher et al., 2014 · Open in CIViC	civic
VHL R120* (c.358A>T)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8560 Three patients with mutations in the VHL gene were diagnosed with pancreatic neuroendocrine tumours before the age of 18. Case 1 was a 7-year-old male who presented with reduced visual acuity due to m… (full text at CIViC) PMID 29752349 · O'Toole et al., 2018 · Open in CIViC

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.