VHL L188Q (c.563T>A)

CI-VAR-00002287Explore in graph →NP_000542.1:p.Leu188GlnNM_000551.3:c.563T>AClinVar 625265 CIViC 1861 rs1559429824

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 L188Q (c.563T>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5085 Germline mutation analysis of 469 VHL families reveled 300 mutations. The most common germline mutations were identified between codons 75-82, between codons 157-189 (Elongin binding domain) and at th… (full text at CIViC) PMID 8956040 · Zbar et al., 1996 · Open in CIViC	civic
VHL L188Q (c.563T>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID6061 In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · 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
625265	Likely pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome	germline	1	Aug 01, 2018	clinvar