Variant · Snv

VHL R200W (c.598C>T)

CI-VAR-00003750Explore in graph →NP_000542.1:p.Arg200TrpNM_000551.3:c.598C>TClinVar 2232 CIViC 631 rs28940298

Curated evidence

Evidence by cancer (18 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 1–18 of 18 evidence items across 3 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
Polycythemia Vera1
VHL R200W (c.598C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6470 Plasma concentrations of Th1 and Th2 cytokines were analyzed using the Bio-Plex multiplex suspension array system in 34 homozygotes VHL patients, 4 heterozygous VHL patients, and 32 VHL wild-type part… (full text at CIViC) PMID 19062180 · Niu et al., 2009 · Open in CIViC	civic
Chuvash Polycythemia5unmapped disease
VHL R200W (c.598C>T)	(predisposing)	Predisposing	B	Supports Predisposition	3	submitted	EID8250 This is a cross-sectional observational study of 120 adult and pediatric VHL(R200W) homozygotes and 31 controls at outpatient facilities in Chuvashia, Russian Federation. All VHL R200W homozygous has … (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
2232	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Acute leukemia of ambiguous lineage; Nonpapillary renal cell carcinoma; VHL-related disorder; Pheochromocytoma; Inherited phaeochromocytoma and paraganglioma excluding NF1	germline	33

Von Hippel-Lindau Disease12unmapped disease
VHL R200W (c.598C>T)	(predisposing)	Predisposing	C	Supports Predisposition	1	submitted	EID5532 Eight children with a history of polycythemia and elevated serum erythropoietin level were evaluated. Three germline mutations were identified in 4 patients while, mutations were not detected for othe… (full text at CIViC) PMID 12393546 · Pastore et al., 2003 · Open in CIViC	civic
VHL R200W (c.598C>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5539 Twenty individuals with Chuvash polycythemia and 51 first-degree relatives from 11 unrelated families were studied for mutations in the VHL gene. All individuals with Chuvash polycythemia carried this… (full text at CIViC) PMID 12415268 · Ang et al., 2002 · Open in CIViC	civic
VHL R200W (c.598C>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5569 Of the 13 polycythemic patients analyzed, 7 were found to have VHL mutations; all 7 had both VHL alleles mutated. This missense mutation was found in 4 compound heterozygotes with polycythemia (patien… (full text at CIViC) PMID 12844285 · Pastore et al., 2003 · Open in CIViC	civic
VHL R200W (c.598C>T)	(predisposing)	Predisposing	C	Supports Predisposition	4	submitted	EID5763 This study reports 1,548 germline and somatic mutations from 945 VHL families. This mutation was found in a homozygous patient with congenital polycythemia (case no. 37784). ACMG evidence codes: 'PP2'… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC	civic
VHL R200W (c.598C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5855 Case report of 5 Caucasian patients with mutations in the VHL gene and polycythemia. Patient 2, 3, and 4 described here were homozygous for the above mutation. ACMG evidence codes: 'PP2' because they … (full text at CIViC) PMID 15642680 · Bento et al., 2005 · Open in CIViC	civic
VHL R200W (c.598C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6481 Ninety VHL R200W homozygotes and 52 controls with normal VHL alleles from Chuvashia, Russia, were studied under basal circumstances. 52 participants were female and 38 were male. The participants were… (full text at CIViC) PMID 21876117 · Gordeuk et al., 2011 · Open in CIViC	civic
VHL R200W (c.598C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6482 Patients with erythrocytosis from 4 families of Asian and Western European ancestry were genetically screened. This confirmed a missense mutation at c.598C > T of the VHL gene. The sample included 6 m… (full text at CIViC) PMID 12702509 · Percy et al., 2003 · Open in CIViC	civic
VHL R200W (c.598C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6650 DNA samples extracted from the blood of patients with idiopathic erythrocytosis were acquired from four separate idiopathic erythrocytosis databases (UK, Portugal, Germany and The Netherlands). Geneti… (full text at CIViC) PMID 27651169 · Camps et al., 2016 · Open in CIViC	civic
VHL R200W (c.598C>T)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8544 188 individuals presenting with a single hemangioblastoma, no family history of VHL disease, and no evidence of retinal or abdonimal manigestations of the disease at the time of diagnosis, were invest… (full text at CIViC) PMID 17264095 · Woodward et al., 2007 · Open in CIViC	civic
VHL R200W (c.598C>T)	(predisposing)	Predisposing	C	N/A N/A	3	rejected	EID9436 A study reports one family bearing two VHL gene mutations in cis (R200W and R161Q). Peripheral blood samples were taken from seven members of the family and through Sanger sequencing it was found that… (full text at CIViC) PMID 25371412 · Couvé et al., 2014 · Open in CIViC	civic
VHL R200W (c.598C>T) AND VHL R161Q (c.482G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID8790 A study reports one family bearing two VHL gene mutations in cis (R200W and R161Q). The proband (III-2) was originally identified as a heterozygous carrier of a single c.598C>T, p.Arg200Trp (R200W) mu… (full text at CIViC) PMID 25371412 · Couvé et al., 2014 · Open in CIViC	civic
VHL R200W (c.598C>T) AND VHL V130I (c.388G>A)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5634 A case report of a male VHL patient who presented with erythrocytosis since childhood is described. Additional clinical manifestations include pheochromocytoma (30 years). Genetic testing confirmed th… (full text at CIViC) PMID 22393103 · Capodimonti et al., 2012 · Open in CIViC	civic