VHL N78S (c.233A>G)

CI-VAR-00002953Explore in graph →NP_000542.1:p.Asn78SerNM_000551.3:c.233A>GClinVar 93326 CIViC 1755 rs5030804

Curated evidence

Evidence by cancer (47 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 1–47 of 47 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
Renal Cell Carcinoma1
VHL N78S (c.233A>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6022 In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC) PMID 7591282 · Bailly et al., 1995 · Open in CIViC	civic
Von Hippel-Lindau Disease46unmapped disease
VHL N78S (c.233A>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID4921 In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. The p… (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
93326	Pathogenic	reviewed by expert panel	3	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; VHL-related disorder	germline	14	Jun 25, 2024	clinvar