VHL W117G (c.349T>G)

CI-VAR-00004675Explore in graph →NP_000542.1:p.Trp117GlyNM_000551.3:c.349T>GClinVar 862346 CIViC 2521 rs1696261074

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 W117G (c.349T>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6821 A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC) PMID 28388566 · Peng et al., 2017 · Open in CIViC	civic
VHL W117G (c.349T>G)	(predisposing)	Predisposing	C	Supports Predisposition	4	submitted	EID8289 23 patients from 12 families diagnosed with hereditary VHL disease at the Peking University First Hospital Department of Urology were described as part of a broader study examining telomere length and… (full text at CIViC) PMID 24986515 · Ning et al., 2014 · 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
862346	Pathogenic	criteria provided, single submitter	1	Chuvash polycythemia; Von Hippel-Lindau syndrome	germline	1	Feb 13, 2021	clinvar