VHL L158fs (c.471dupT)

CI-VAR-00002259Explore in graph →NP_000542.1:p.Leu158SerfsTer16NM_000551.3:c.471dupCIViC 1783

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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 Disease2unmapped disease
VHL L158fs (c.471dupT)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID4950 Tissue analysis from 61 VHL patients revealed 22 variants within VHL gene open reading frame. All mutations cluster to the 3’ end of the VHL gene open reading frame, implicating this region as importa… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · Open in CIViC	civic
VHL L158fs (c.471dupT)	(predisposing)	Predisposing	C	N/A N/A	2	accepted	EID5646 Germline mutation analysis of 469 VHL families reveled 300 mutations. The most common germline mutations were identified between codons 75-82, between codons 157-189 (Elongin binding domain) and at th… (full text at CIViC) PMID 8956040 · Zbar et al., 1996 · 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.