VHL Q73* (c.217C>T)

CI-VAR-00003584Explore in graph →NP_000542.1:p.Gln73TerNM_000551.3:c.217C>TClinVar 223164 CIViC 1752 rs869025619

Curated evidence

Evidence by cancer (20 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 1–20 of 20 evidence items across 2 cancer contexts 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
Renal Cell Carcinoma1
VHL Q73* (c.217C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5030 Germline VHL mutations were found in all patients who fulfilled clinical criteria for VHL disease. No mutation of VHL was detected in other patients who did not meet clinical criteria. In all cases, s… (full text at CIViC) PMID 19270817 · Cho et al., 2009 · Open in CIViC	civic
Von Hippel-Lindau Disease19unmapped disease
VHL Q73* (c.217C>T)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID4918 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 ·

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
223164	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome	germline	4	Aug 04, 2025	clinvar