VHL K196E (c.586A>G)

CI-VAR-00002100Explore in graph →NP_000542.1:p.Lys196GluNM_000551.3:c.586A>GClinVar 411991 CIViC 2147 rs281860296

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 K196E (c.586A>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5758 This paper looks at 70 unrelated patients with idiopathic polycythemia and aims to identify their etiology and molecular basis. Genetic testing was performed on all patients, which examined all genes … (full text at CIViC) PMID 23859443 · Bento et al., 2013 · 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
411991	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome	germline	4	Jun 17, 2025	clinvar