VHL Y156C (c.467A>G)

CI-VAR-00004757Explore in graph →NP_000542.1:p.Tyr156CysNM_000551.3:c.467A>GClinVar 43600 CIViC 1946 rs397516441

Curated evidence

Evidence by cancer (15 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 1–15 of 15 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 Y156C (c.467A>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6113 Frequency of VHL, RET, SDHD, SDHC, and SDHB germline mutations in 21 patients clinically classified as having apparently sporadic pheochromocytomas or paragangliomas was assessed. Germline variations … (full text at CIViC) PMID 12807974 · Bauters et al., 2003 · Open in CIViC	civic
Von Hippel-Lindau Disease14unmapped disease
VHL Y156C (c.467A>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5238 Seven Hungarian families (35 members) with VHL and 37 unrelated patients with apparently sporadic pheochromocytoma had their VHL gene molecularly analyzed.The above mutation was found in 1 patient wit… (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
43600	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia	germline	8	Oct 12, 2025	clinvar