VHL L63P (c.188T>C)

CI-VAR-00002377Explore in graph →NP_000542.1:p.Leu63ProNM_000551.3:c.188T>CClinVar 2227 CIViC 1944 rs104893827

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
Adrenal Gland Pheochromocytoma1
VHL L63P (c.188T>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6126 Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 35 year-old male with unilat… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC	civic
Von Hippel-Lindau Disease3unmapped disease
VHL L63P (c.188T>C)	(predisposing)	Predisposing	C	Supports Predisposition	1	submitted	EID5235 Seven Hungarian families (35 members) with VHL and 37 unrelated patients with apparently sporadic pheochromocytoma had their VHL gene molecularly analyzed. The above mutation was found in 1 patient wi… (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
2227	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Pheochromocytoma; Chuvash polycythemia; Von Hippel-Lindau syndrome	germline	3	May 06, 2018	clinvar