VHL Y175C (c.524A>G)

CI-VAR-00004770Explore in graph →NP_000542.1:p.Tyr175CysNM_000551.3:c.524A>GClinVar 36905 CIViC 2067 rs193922613

Curated evidence

Evidence by cancer (8 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 1–8 of 8 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
Von Hippel-Lindau Disease7unmapped disease
VHL Y175C (c.524A>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5577 Thirty-five unrelated patients suspected of having von Hippel-Lindau disease were analyzed and 32 VHL gene variants were found in 35 patients. An association of clear cell renal carcinoma development … (full text at CIViC) PMID 14722919 · Ruiz-Llorente et al., 2004 · Open in CIViC	civic
VHL Y175C (c.524A>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5747 This paper looks at 70 unrelated patients with idiopathic polycythemia and aims to identify their etiology and molecular basis. Genetic testing was performed on all patients, which examined all genes … (full text at CIViC) PMID 23859443 · Bento et al., 2013 · 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
36905	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia	germline	5	May 05, 2025	clinvar

Unmapped disease1unmapped disease
VHL Y175C (c.524A>G)	(functional)	Functional	D	Does Not Support Loss Of Function	3	submitted	EID8264 The heterozygous Y175C (c.524A>G) VHL variant was found in the germline of a 53 year old male with bilateral adrenal pheochromocytomas. Wildtype (WT) and Y175C VHL were stably overexpressed in VHL-nul… (full text at CIViC) PMID 30105105 · Astapova et al., 2018 · Open in CIViC	civic