VHL D92G (c.275A>G)

CI-VAR-00000605Explore in graph →NP_000542.1:p.Asp92GlyNM_000551.3:c.275A>GCIViC 2449

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 D92G (c.275A>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	accepted	EID6553 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	civic
VHL D92G (c.275A>G)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8763 A case series described 3 patients with endolymphatic sac tumor and VHL disease. The first patient was a 33Y female found with endolymphatic sac tumour, cerebellar hemangioblastoma, and pancreatic cys… (full text at CIViC) PMID 20351605 · Codreanu et al., 2010 · 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.