VHL L128fs (c.381del)

CI-VAR-00002223Explore in graph →NP_000542.1:p.Leu128PheTer30NM_000551.3:c.381delClinVar 625241 CIViC 3068 rs1559428107

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 L128fs (c.381del)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8326 This case report details a girl who presented at 7 with apparent Coate's disease, and when followed up later at 15 was found to have multiple severe retinal hemangiomas leading to retinal detachment. … (full text at CIViC) PMID 16391622 · Valenzuela et al., 2005 · Open in CIViC	civic
VHL L128fs (c.381del)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID9393 A cohort of VHL patients from the Greater Toronto Area in Canada were retrospectively reviewed. Patient ID 73 was found with this germline mutation and CNS hemangioblastoma and retinal capillary heman… (full text at CIViC) PMID 31368132 · Salama et al., 2019 · 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
625241	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome	germline	2	Jul 20, 2023	clinvar