VHL Q195* (c.583C>T)

CI-VAR-00003510Explore in graph →NP_000542.1:p.Gln195TerNM_000551.3:c.583C>TClinVar 428794 CIViC 1810 rs5030825

Curated evidence

Evidence by cancer (15 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 1–15 of 15 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 Disease15unmapped disease
VHL Q195* (c.583C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID4987 An investigation of 94 VHL patients without large deletions for intragenic mutations revealed 40 different mutations in 55 unrelated individuals. In all patients with multiple affected family members … (full text at CIViC) PMID 7987306 · Crossey et al., 1994 · Open in CIViC	civic
VHL Q195* (c.583C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5097 Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, resulted in the detection of 43 germline VHL mutations. Majority of mutations were found in patients … (full text at CIViC) PMID 17661816 · Hes et al., 2007 · 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
428794	Pathogenic	reviewed by expert panel	3	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome	germline	4	Jun 25, 2024	clinvar