VHL I151T (c.452T>C)

CI-VAR-00001975Explore in graph →NP_000542.1:p.Ile151ThrNM_000551.3:c.452T>CClinVar 428803 CIViC 1871 rs869025655

Curated evidence

Evidence by cancer (8 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 1–8 of 8 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 Disease8unmapped disease
VHL I151T (c.452T>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5101 Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, resulted in the detection of 43 germline VHL mutations. Majority of mutations were found in patients … (full text at CIViC) PMID 17661816 · Hes et al., 2007 · Open in CIViC	civic
VHL I151T (c.452T>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5141 Genotype-phenotype correlations of 573 VHL patients from 200 kindreds were analyzed. Higher risk of pheochromocytoma was associated with missense mutations that result in substitution of a surface ami… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · 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
428803	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	4	Dec 20, 2021	clinvar