VHL L163F (c.487C>T)

CI-VAR-00002263Explore in graph →NP_000542.1:p.Leu163PheNM_000551.3:c.487C>TClinVar 480772 CIViC 2505 rs1553620318

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 L163F (c.487C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID6763 150 index patients with pheochromocytoma/paraganglioma were evaluated. Phenotypic data were collected and germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested. A… (full text at CIViC) PMID 27539324 · Pandit et al., 2016 · Open in CIViC	civic
VHL L163F (c.487C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6783 Medical records of 31 genetically proven VHL patients with pheochromocytoma/paraganglioma were studied. A 42 year old Asian Indian male presented with unilateral pheochromocytoma and central nervous s… (full text at CIViC) PMID 29124493 · Lomte et al., 2018 · 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
480772	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau syndrome	germline	3	Nov 25, 2024	clinvar