VHL P59fs (c.173_174insC)

CI-VAR-00003371Explore in graph →NP_000542.1:p.Pro59AlafsTer73NM_000551.3:c.173_174insCCIViC 851

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 P59fs (c.173_174insC)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID1950 Mutation was detected using direct sequencing/MLPA in and 18Y old female patient referred to Samsung Medical Center, Seoul, Korea. Patient shows CNS hemangioblastoma and was positive for 'other' pheno… (full text at CIViC) PMID 19270817 · Cho et al., 2009 · Open in CIViC	civic
VHL P59fs (c.173_174insC)	(predisposing)	Predisposing	C	Supports Predisposition	3	rejected	EID5173 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

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.