VHL G93S (c.277G>A)

CI-VAR-00001852Explore in graph →NP_000542.1:p.Gly93SerNM_000551.3:c.277G>AClinVar 2237 CIViC 1859 rs5030808

Curated evidence

Evidence by cancer (12 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 1–12 of 12 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 Disease12unmapped disease
VHL G93S (c.277G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5081 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 G93S (c.277G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5100 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

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
2237	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Pheochromocytoma; Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome	germline/somatic	8	Jan 24, 2026	clinvar