VHL N78H (c.232A>C)

CI-VAR-00002951Explore in graph →NP_000542.1:p.Asn78HisNM_000551.3:c.232A>CCIViC 1754

Curated evidence

Evidence by cancer (7 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 1–7 of 7 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 N78H (c.232A>C)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID5130 Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amin… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC	civic
Von Hippel-Lindau Disease6unmapped disease
VHL N78H (c.232A>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID4920 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. Using… (full text at CIViC) PMID 7728151 ·

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.