VHL L118R (c.353T>G)

CI-VAR-00002207Explore in graph →NP_000542.1:p.Leu118ArgNM_000551.3:c.353T>GClinVar 428802 CIViC 1822 rs5030830

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 L118R (c.353T>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5007 In a study of 138 unrelated VHL families, 109 germline mutations were found. Missense mutations were more frequently found in families with pheochromocytoma (PC). Deletions. Nonsense, and frameshift m… (full text at CIViC) PMID 8730290 · Maher et al., 1996 · Open in CIViC	civic
VHL L118R (c.353T>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID7738 A retrospective study of thirty-one subjects with chromaffin tumours from the St Bartholomew’s Hospital found 12 patients with VHL mutations. A germline missense mutation (c.353T>G) was found in famil… (full text at CIViC) PMID 19208735 · Srirangalingam et al., 2009 · 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
428802	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome	germline	2	May 21, 2023	clinvar