VHL Y98* (c.294C>G)

CI-VAR-00004861Explore in graph →NP_000542.1:p.Tyr98TerNM_000551.3:c.294C>GClinVar 625235 CIViC 3125 rs1559426115

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 Y98* (c.294C>G)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8557 A 17-year old male presented with painless swelling of the left scrotum, which he reported to be present for a few years. Histopathological examination revealed a unilateral papillary cystadenoma of t… (full text at CIViC) PMID 29729363 · Miscia et al., 2018 · Open in CIViC	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
625235	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	3	Oct 08, 2025	clinvar