Variant · Snv

VHL R113* (c.337C>T)

CI-VAR-00003626Explore in graph →NP_000542.1:p.Arg113TerNM_000551.3:c.337C>TClinVar 220414 CIViC 1796 rs5030810

Curated evidence

Evidence by cancer (22 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 1–22 of 22 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 Disease22unmapped disease
VHL R113* (c.337C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID4969 An investigation of 94 VHL patients without large deletions for intragenic mutations revealed 40 different mutations in 55 unrelated individuals. In all patients with multiple affected family members … (full text at CIViC) PMID 7987306 · Crossey et al., 1994 · Open in CIViC	civic
VHL R113* (c.337C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5043 Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mutations predicted to inactivate the VHL protein were associated with renal cell carcinoma and hemang… (full text at CIViC) PMID 9829911 · Stolle et al., 1998 · 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
220414	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome; VHL-related disorder	germline	5	May 30, 2025	clinvar