VHL K196* (c.586A>T)

CI-VAR-00002098Explore in graph →NP_000542.1:p.Lys196TerNM_000551.3:c.586A>TClinVar 196284 CIViC 1913 rs281860296

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 K196* (c.586A>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5176 Germline VHL mutations were found in all Korean patients who fulfilled clinical criteria for VHL disease. No mutation of VHL was detected in other patients who did not meet clinical criteria. In all c… (full text at CIViC) PMID 19270817 · Cho et al., 2009 · Open in CIViC	civic
VHL K196* (c.586A>T)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID8645 Nine patients were recruited who were previously treated for spinal cord hemangioblastomas including five patients with VHL disease. VHL mutation analysis was performed in three patients and two of th… (full text at CIViC) PMID 19096585 · Na et al., 2007 · 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
196284	Pathogenic	reviewed by expert panel	3	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	6	Jun 25, 2024	clinvar