VHL I147T (c.440T>C)

CI-VAR-00001968Explore in graph →NP_000542.1:p.Ile147ThrNM_000551.3:c.440T>CClinVar 411964 CIViC 2291 rs1060503555

Curated evidence

Evidence by cancer (2 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 1–2 of 2 evidence items across 2 cancer contexts 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
Adrenal Gland Pheochromocytoma1
VHL I147T (c.440T>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6107 Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 72 year-old female with unil… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC	civic
Von Hippel-Lindau Disease1unmapped disease
VHL I147T (c.440T>C)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID9035 Tissue specimens of apparent sporadic pheochromocytoma were retrieved from the archives of the Department of Pathology of the Erasmus MC (Rotterdam), the Radboud University Nijmegen Medical Center, an… (full text at 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
411964	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	5	Mar 17, 2026	clinvar