VHL V194G (c.581T>G)

CI-VAR-00004493Explore in graph →NP_000542.1:p.Val194GlyNM_000551.3:c.581T>GClinVar 428810 CIViC 2493 rs1131690963

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL V194G (c.581T>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6736 A 17-year-old female was referred for paroxysmal supraventricular tachycardia and anemia. She was diagnosed with a left adrenal pheochromocytoma. A left adrenalectomy was performed. Six months after s… (full text at CIViC) PMID 24518179 · Kawashima et al., 2014 · Open in CIViC	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
428810	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash polycythemia; Pheochromocytoma; Nonpapillary renal cell carcinoma	germline	4	Apr 12, 2025	clinvar