VHL Q164L (c.491A>T)

CI-VAR-00003504Explore in graph →NP_000542.1:p.Gln164LeuNM_000551.3:c.491A>TCIViC 2079

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 Q164L (c.491A>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5620 64 VHL patients with renal involvement were analyzed. 61 of the 64 patients had a known germline mutation. The above mutation was found in 1 patient. Clinical manifestations included renal cell carcin… (full text at CIViC) PMID 22156657 · Jilg et al., 2012 · Open in CIViC	civic
VHL Q164L (c.491A>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID6617 Patients with ELSTs were identified and included in the International Endolymphatic Sac Tumor Registry. The registry contained 93 patients as of July 2014, and of those, 25 were sporadic, and 68 assoc… (full text at CIViC) PMID 25867206 · Bausch et al., 2016 · 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.