VHL P61= (c.183C>G)

CI-VAR-00003374Explore in graph →NP_000542.1:p.Pro61=NM_000551.3:c.183C>GClinVar 135951 CIViC 1931 rs63650860

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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 P61= (c.183C>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6021 In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC) PMID 7591282 · Bailly et al., 1995 · Open in CIViC	civic
Von Hippel-Lindau Disease3unmapped disease
VHL P61= (c.183C>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5208 In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 18 novel variants were identified in VHL patients, but none were present in 200 unaffected control in… (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
135951	Benign	reviewed by expert panel	3	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Pheochromocytoma; Nonpapillary renal cell carcinoma	germline	16	Jun 25, 2024	clinvar