Variant · Snv

VHL Y112H (c.334T>C)

CI-VAR-00004745Explore in graph →NP_000542.1:p.Tyr112HisNM_000551.3:c.334T>CClinVar 2222 CIViC 1865 rs104893824

Curated evidence

Evidence by cancer (11 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 1–11 of 11 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 Disease11unmapped disease
VHL Y112H (c.334T>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5091 Germline mutation analysis of 469 VHL families reveled 300 mutations. The most common germline mutations were identified between codons 75-82, between codons 157-189 (Elongin binding domain) and at th… (full text at CIViC) PMID 8956040 · Zbar et al., 1996 · Open in CIViC	civic
VHL Y112H (c.334T>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5475 26 VHL patients from 18 families, who had undergone a partial adrenalectomy for pheochromocytoma were retrospectively analyzed. 1 patient from a single family was confirmed to have the above mutation.… (full text at CIViC) PMID 20846682 · Benhammou et al., 2010 · 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
2222	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; VHL-related disorder; Hereditary cancer-predisposing syndrome	germline	8	Aug 27, 2025	clinvar