VHL L128F (c.381_382delinsTT)

CI-VAR-00002219Explore in graph →LRG_322p1:p.Leu128PheClinVar 223203 CIViC 1851 rs869025645

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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 Disease4unmapped disease
VHL L128F (c.381_382delinsTT)	(predisposing)	Predisposing	C	Supports Predisposition	3	rejected	EID5065 Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mutations predicted to inactivate the VHL protein were associated with renal cell carcinoma and hemang… (full text at CIViC) PMID 9829911 · Stolle et al., 1998 · Open in CIViC	civic
VHL L128F (c.381_382delinsTT)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5084 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

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
223203	Likely pathogenic	no assertion criteria provided	0	Von Hippel-Lindau syndrome	germline	1	Feb 26, 2016	clinvar