Variant · Snv

VHL S80G (c.238A>G)

CI-VAR-00004128Explore in graph →NP_000542.1:p.Ser80GlyNM_000551.3:c.238A>GClinVar 186220 CIViC 2106 rs786202787

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 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 Disease2unmapped disease
VHL S80G (c.238A>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5668 Three groups of patients with pheochromocytoma were analyzed for mutations in VHL, RET, and GDNF gene. Group A consisted of 8 kindreds with familial pheochromocytoma; Group B, 2 patients with isolated… (full text at CIViC) PMID 9215674 · Woodward et al., 1997 · Open in CIViC	civic
VHL S80G (c.238A>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6502 A 12Y male African-American patient was found with multiple bilateral pheochromocytoma, in addition to congenital microcephaly, developmental delay and cryptorchidism. Genetic anaylsis confirmed a c.2… (full text at CIViC) PMID 12500216 · Assadi et al., 2003 · 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
186220	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash polycythemia; VHL-related disorder	germline	5	Mar 30, 2026	clinvar