VHL Y185* (c.555C>A)

CI-VAR-00004777Explore in graph →NP_000542.1:p.Tyr185TerNM_000551.3:c.555C>AClinVar 223233 CIViC 2115 rs864622109

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 Y185* (c.555C>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5690 Genetic analysis of 7 Hungarian individuals from 5 unrelated families affected with von Hippel-Lindau disease revealed 5 different mutations, 3 of which were novel. The mutations could not be found wi… (full text at CIViC) PMID 23298237 · Losonczy et al., 2013 · Open in CIViC	civic
VHL Y185* (c.555C>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10964 216 patients with clinically expected VHL disease due to family history or presence of VHL typical tumours were routinely examined in an eye centre in Germany between January 2019 and January 2020, ma… (full text at CIViC) PMID 33720516 · Reich et al., 2021 · 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
223233	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia	germline	3	Apr 14, 2025	clinvar