Variant · Snv

VHL P81L (c.242C>T)

CI-VAR-00003409Explore in graph →NP_000542.1:p.Pro81LeuNM_000551.3:c.242C>TClinVar 36899 CIViC 2084 rs193922608

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 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 Disease4unmapped disease
VHL P81L (c.242C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5631 79 patients with head and neck paragangliomas were analyzed for SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, MAX, and TMEM127 genes by PCR/sequencing. 1 patient was found to have the above mutation, and prese… (full text at CIViC) PMID 22241717 · Piccini et al., 2012 · Open in CIViC	civic
VHL P81L (c.242C>T)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8749 Medical records of 45 Italian patients with pheochromocytoma/paraganglioma referred to the hypertension centers of the University of Brescia and the University of Turin were reviewed. Only familial an… (full text at CIViC) PMID 17102082 · Castellano et al., 2006 · Open in 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
36899	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Inherited phaeochromocytoma and paraganglioma excluding NF1	germline	13	Oct 21, 2025	clinvar