VHL L158Q (c.473T>A)

CI-VAR-00002255Explore in graph →NP_000542.1:p.Leu158GlnNM_000551.3:c.473T>ACIViC 2467

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL L158Q (c.473T>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6651 A 45Y male patient presenting with bilateral retinal angiomas, multifocal cerebellar hemangioblastomas, and bilateral RCC was found to have a c.473T>A (p.Leu158Glu) germline mutation in the VHL gene. … (full text at CIViC) PMID 27069690 · Arunachal et al., 2016 · 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.