VHL V166A (c.497T>C)

CI-VAR-00004468Explore in graph →NP_000542.1:p.Val166AlaNM_000551.3:c.497T>CClinVar 43605 CIViC 2437 rs397516445

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 V166A (c.497T>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	accepted	EID6518 Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this missense varaint in the VHL gene. The patient was 27Y at the last follow-up and … (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC	civic
VHL V166A (c.497T>C)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8484 All patients included in the study were VHL mutation carriers of 18 years or older examined between 1972 and 2012 in the VHL expertise centers Uni-versity Medical Center Groningen (UMCG) and Universit… (full text at CIViC) PMID 31087189 · van der Horst-Schrivers et al., 2019 · 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
43605	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome	germline	5	Aug 01, 2018	clinvar