VHL S183W (c.548C>G)

CI-VAR-00004010Explore in graph →NP_000542.1:p.Ser183TrpNM_000551.3:c.548C>GClinVar 219158 CIViC 2503 rs5030823

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 S183W (c.548C>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID6757 150 index patients with pheochromocytoma/paraganglioma were evaluated. Phenotypic data were collected and germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested. A… (full text at CIViC) PMID 27539324 · Pandit et al., 2016 · Open in CIViC	civic
VHL S183W (c.548C>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6782 Medical records of 31 genetically proven VHL patients with pheochromocytoma/paraganglioma were studied. A 55 year old Asian Indian female presented with sympathetic paraganglioma. Genetic testing conf… (full text at CIViC) PMID 29124493 · Lomte 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
219158	Uncertain significance	criteria provided, single submitter	1	Pheochromocytoma; Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	2	Apr 21, 2021	clinvar