VHL I151N (c.452T>A)

CI-VAR-00001973Explore in graph →CIViC 2476

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL I151N (c.452T>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6684 Kaplan-Meier plot and Cox regression model were used to evaluate the median survival and assess how survival was influenced by birth year, birth order, sex, family history, mutation type, onset age an… (full text at CIViC) PMID 29330336 · Wang et al., 2018 · Open in CIViC	civic
VHL I151N (c.452T>A)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8559 A 40-year old Caucasian female from Slovenia was found to have a missense germline mutation in VHL, c.452T>A (p.Ile151Asn). The patient's extraneuraxial hemangioblastoma tissue was also tested for som… (full text at CIViC) PMID 29941223 · Muscarella et al., 2018 · 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.