VHL P25L (c.74C>T)

CI-VAR-00003321Explore in graph →NP_000542.1:p.Pro25LeuNM_000551.3:c.74C>TClinVar 93330 CIViC 850 rs35460768

Curated evidence

Evidence by cancer (18 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 1–18 of 18 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 P25L (c.74C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID4899 Mutation discovered in 64 yr. old and 77 yr. old brothers. 64 yr. old brother was diagnosed with VHL disease (VHLD) due to mutation and previous diagnosis of colon adenocarcinoma, clear cell renal cel… (full text at CIViC) PMID 23857093 · Zinnamosca et al., 2013 · Open in CIViC	civic
Von Hippel-Lindau Disease17unmapped disease
VHL P25L (c.74C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	accepted	EID1949 Mutation was detected in three unaffected members of Polish VHL families. Described as being in the non-conserved portion of the VHL coding region where mutations are not typically seen according to t… (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
93330	Benign	reviewed by expert panel	3	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Maffucci syndrome; Nonpapillary renal cell carcinoma; Pheochromocytoma	germline	34	Jun 25, 2024	clinvar