VHL L128P (c.383T>C)

CI-VAR-00002221Explore in graph →NP_000542.1:p.Leu128ProNM_000551.3:c.383T>CCIViC 2157

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 L128P (c.383T>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5784 In the analysis of 63 VHL patients, 55 patients were found with pancreatic involvement. Genetic tests on 35 of 55 VHL patients revealed VHL mutations in 28 patients. Hemangioblastomas of the central n… (full text at CIViC) PMID 25562111 · Park et al., 2015 · Open in CIViC	civic
VHL L128P (c.383T>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6873 Medical records of 26 patients with germline mutations of the VHL gene who had been diagnosed with VHL disease in Severance Hospital (Seoul, Republic of Korea) and Samsung Medical Center (Seoul, Repub… (full text at CIViC) PMID 25078357 · Hwang et al., 2014 · Open in CIViC

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.