VHL D197N (c.589G>A)

CI-VAR-00000448Explore in graph →NP_000542.1:p.Asp197AsnNM_000551.3:c.589G>ACIViC 2105

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 D197N (c.589G>A)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5666 This study reports 3 patients with intra-adrenal pheochromocytoma who were analyzed for relevant familial genes. Genetic analysis demonstrated the presence of the above mutation in all patients. ACMG … (full text at CIViC) PMID 22946750 · D'Elia et al., 2013 · Open in CIViC	civic
VHL D197N (c.589G>A)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8588 Thirty-nine cases of sporadic or familial pheo/PGL and pituitary adenomas (PA) were investigated. Known pheo/PGL genes (SDHA-D, SDHAF2, RET, VHL, TMEM127, MAX, FH) and pituitary adenoma genes (MEN1, A… (full text at CIViC) PMID 25494863 · Dénes et al., 2015 · Open in CIViC	civic

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.