VHL Y175N (c.523T>A)

CI-VAR-00004773Explore in graph →NP_000542.1:p.Tyr175AsnNM_000551.3:c.523T>ACIViC 2066

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL Y175N (c.523T>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5576 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 Y175N (c.523T>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5701 This paper describes the clinical and genetic findings of 36 Spanish pediatric patients with pheochromocytoma or paraganglioma. Genetic testing involved sequencing and MLPA of VHL, RET, SDHA, SDHB, SD… (full text at CIViC) PMID 23404858 · Cascón et al., 2013 · Open in CIViC

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.