VHL S111C (c.331A>T)

CI-VAR-00003978Explore in graph →NP_000542.1:p.Ser111CysNM_000551.3:c.331A>TClinVar 565557 CIViC 2045 rs1559426203

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 S111C (c.331A>T)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID5514 A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeare… (full text at CIViC) PMID 12202531 · Dollfus et al., 2002 · Open in CIViC	civic
VHL S111C (c.331A>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5564 Frequency of VHL, RET, SDHD, SDHC, and SDHB germline mutations in 21 patients clinically classified as having apparently sporadic pheochromocytomas or paragangliomas was assessed. Germline variations … (full text at CIViC) PMID 12807974 · Bauters et al., 2003 · 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
565557	Pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	1	Jan 30, 2018	clinvar