Variant · Snv

VHL Y98S (c.293A>C)

CI-VAR-00004872Explore in graph →NP_000542.1:p.Tyr98SerNM_000551.3:c.293A>CClinVar 219160 CIViC 2480 rs864321643

Curated evidence

Evidence by cancer (7 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 1–7 of 7 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 Disease7unmapped disease
VHL Y98S (c.293A>C)	(predisposing)	Predisposing	B	Supports Predisposition	3	submitted	EID9182 301 were enrolled in a prospective clinical protocol to evaluate the natural history of vHL-associated pancreatic lesions (NCT00062166). Of these, 69 patients with pancreatic manifestations of vHL dis… (full text at CIViC) PMID 29294023 · Tirosh et al., 2018 · Open in CIViC	civic
VHL Y98S (c.293A>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6693 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofib… (full text at CIViC) PMID 28432847 · Khadilkar et al., 2017 · Open in 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
219160	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Pheochromocytoma; Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome	germline	5	Mar 19, 2024	clinvar