VHL S111G (c.331A>G)

CI-VAR-00003980Explore in graph →NP_000542.1:p.Ser111GlyNM_000551.3:c.331A>GClinVar 633016 CIViC 2243 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 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 S111G (c.331A>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6010 Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · Open in CIViC	civic
Von Hippel-Lindau Disease2unmapped disease
VHL S111G (c.331A>G)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8722 Twenty-one patients with VHL disease from 11 families in Nova Scotia were identified. Sixteen patients diagnosed with VHL disease had genetic testing and 2 point mutations and 1 deletion was idenfied.… (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
633016	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	2	Nov 23, 2020	clinvar