VHL D121H (c.361G>C)

CI-VAR-00000407Explore in graph →NP_000542.1:p.Asp121HisNM_000551.3:c.361G>CCIViC 2154

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL D121H (c.361G>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5779 A 23-year-old woman with metastatic pheochromocytoma was identified with this novel missense mutation. The mutation was also found in the mother. No further phenotype described. ACMG evidence codes: '… (full text at CIViC) PMID 25557216 · Russell et al., 2015 · Open in CIViC	civic
VHL D121H (c.361G>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	rejected	EID6479 Six patients with classic VHL disease (VHL patients) and 6 healthy control participants took part in the study. The patients were free from any associated neoplasia at the time of the study and had no… (full text at CIViC) PMID 361866502 · 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.