VHL H125Y (c.373C>T)

CI-VAR-00001894Explore in graph →NP_000542.1:p.His125TyrNM_000551.3:c.373C>TClinVar 411970 CIViC 3122 rs375401722

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 H125Y (c.373C>T)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8542 112 unrelated patients with pheochromocytoma or paraganglioma were screened for mutations in the VHL gene, as well as the SDHx gene. Mutation analysis was performed on patient blood samples: DNA was e… (full text at CIViC) PMID 22566194 · Persu et al., 2012 · 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
411970	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome; Nonpapillary renal cell carcinoma; Pheochromocytoma	germline	10	Nov 26, 2025	clinvar