VHL L158P (c.473T>C)

CI-VAR-00002254Explore in graph →NP_000542.1:p.Leu158ProNM_000551.3:c.473T>CClinVar 182980 CIViC 1738 rs121913346

Curated evidence

Evidence by cancer (12 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 1–12 of 12 evidence items across 2 cancer contexts 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
Kidney Carcinoma1
VHL L158P (c.473T>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6922 Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC	civic
Von Hippel-Lindau Disease11unmapped disease
VHL L158P (c.473T>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID4902 In this study of the VHL gene product (pVHL), wild-type pVHL was found to bind to 2 cellular proteins (designated p10 and p14 respectively) of 10 and 14 kilodaltons long consistently in vitro and in v… (full text at 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
182980	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia	germline	5	Jul 17, 2023	clinvar