VHL S183* (c.548C>A)

CI-VAR-00004005Explore in graph →NP_000542.1:p.Ser183TerNM_000551.3:c.548C>AClinVar 2215 CIViC 1784 rs5030823

Curated evidence

Evidence by cancer (13 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 1–13 of 13 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
Renal Cell Carcinoma1
VHL S183* (c.548C>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	accepted	EID5370 Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in 3 Italian, VHL type 1 family members. Two had retinal angiomas, 2 had hemangiobl… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC	civic
Von Hippel-Lindau Disease12unmapped disease
VHL S183* (c.548C>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID4954 Tissue analysis from 61 VHL patients revealed 22 variants within VHL gene open reading frame. All mutations cluster to the 3’ end of the VHL gene open reading frame, implicating this region as importa… (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
2215	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Papillary renal cell carcinoma type 1; Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome	germline/somatic	10	Dec 29, 2025	clinvar