VHL G104V (c.311G>T)

CI-VAR-00001558Explore in graph →NP_000542.1:p.Gly104ValNM_000551.3:c.311G>TClinVar 223183 CIViC 2428 rs869025630

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 G104V (c.311G>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6492 A 20Y male patient presented with pheochromocytoma and genetic analysis confirmed a germline mutation c.311G>T (p.Gly104Val) in the VHL gene. This mutation was confirmed in the patient's 48Y father wh… (full text at CIViC) PMID 18584357 · Rich et al., 2008 · Open in CIViC	civic
VHL G104V (c.311G>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID7134 A healthy 21 year old woman presented with high blood pressure. She noted palpitations ongoing for 6 months prior. Her adrenal galnds were found to be normal via CT scan. A 2cm x 1.8cm x 1.5cm lesion … (full text at CIViC) PMID 29789510 · Bahougne et al., 2018 · 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
223183	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	6	Sep 06, 2024	clinvar