VHL P192S (c.574C>T)

CI-VAR-00003311Explore in graph →NP_000542.1:p.Pro192SerNM_000551.3:c.574C>TClinVar 2234 CIViC 2064 rs28940300

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL P192S (c.574C>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5570 Of the 13 polycythemic patients analyzed, 7 were found to have VHL mutations; all 7 had both VHL alleles mutated. This missense mutation was found in a compound heterozygote with VHL R200W mutation in… (full text at CIViC) PMID 12393546 · Pastore et al., 2003 · Open in CIViC	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
2234	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Chuvash polycythemia; Von Hippel-Lindau syndrome; Pheochromocytoma; Nonpapillary renal cell carcinoma; Hereditary cancer-predisposing syndrome	germline	8	Jan 12, 2026	clinvar