VHL Y112C (c.355A>G)

CI-VAR-00004744Explore in graph →NP_000542.1:p.Tyr112CysNM_000551.3:c.335A>GClinVar 224919 CIViC 2818 rs869025633

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL Y112C (c.355A>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID7608 In this case study, a 20-year-old Caucasian woman presented with retinal hemangioblastoma. Genetic testing confirmed a germline mutation (c.335A>G) in the VHL gene. The patient’s mother died of pulmon… (full text at CIViC) PMID 30185211 · Minnella et al., 2018 · Open in CIViC	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.