VHL V130I (c.388G>A)

CI-VAR-00004440Explore in graph →NP_000542.1:p.Val130IleNM_000551.3:c.388G>ACIViC 2380

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 R200W (c.598C>T) AND VHL V130I (c.388G>A)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5634 A case report of a male VHL patient who presented with erythrocytosis since childhood is described. Additional clinical manifestations include pheochromocytoma (30 years). Genetic testing confirmed th… (full text at CIViC) PMID 22393103 · Capodimonti et al., 2012 · Open in CIViC	civic
VHL V130I (c.388G>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6345 37 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. One family with 2 patients (F… (full text at CIViC) PMID 28650583 · Launbjerg et al., 2017 · 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.