Variant
VHL R200W
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
- p.R200W:CGG>TGG
- p.Arg200Trp
- p.R200W
- rs28940298
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 3 February 2026
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
R200W is a missense variant in VHL: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Chuvash Polycythemia (criteria provided, multiple submitters, no conflicts). ClinVar also lists it under 1 more condition.
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Chuvash PolycythemiaClinVar VCV000002232 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 6 submissions | 3 February 2026 |
| nonpapillary renal cell carcinomaClinVar VCV000002232 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 3 April 2024 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in VHL
R200W lies in exon 3 of the 3 in VHL's MANE Select transcript, NM_000551.4.
Molecular details
| Gene | VHL |
|---|---|
| Transcript | NM_000551.4MANE Select |
| Coding DNA change (HGVS c.) | c.598C>T |
| Protein change (HGVS p.) | p.Arg200Trpp.R200W |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr3:10149921 C>T |
| Position (GRCh37) | chr3:10191605 C>T |
| dbSNP ID | rs28940298 (opens in a new tab) |
| ClinVar Variation ID | VCV000002232 (opens in a new tab) |
| ClinVar Allele ID | 17271 |
| ClinGen Allele Registry ID | CA020510 (opens in a new tab) |
| ClinVar name | NM_000551.4(VHL):c.598C>T (p.Arg200Trp) |
| Other names | p.R200W:CGG>TGG |
VHL R200W in other databases
Reports that look at this variant (3)
These Genome Test condition reports include R200W among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Kidney Cancer | Kidney Cancer | |
| Polycythemia | Chuvash Polycythemia | Autosomal recessive |
| Urinary and Renal System Tumour | Urinary System Neoplasm |
Other variants in VHL
- c.341-2A>GPathogenic3 stars out of 4
- c.463+1G>APathogenic3 stars out of 4
- E70XPathogenic3 stars out of 4
- E160Sfs*10Pathogenic3 stars out of 4
- F136Lfs*23Pathogenic3 stars out of 4
- K196XPathogenic3 stars out of 4
- N78SPathogenic3 stars out of 4
- N141Kfs*3Pathogenic3 stars out of 4
- P86LPathogenic3 stars out of 4
- Q195XPathogenic3 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.
Cite this page
Dante Labs. (16 October 2026). VHL R200W (c.598C>T, rs28940298) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/vhl/variants/r200w
Dante Labs. VHL R200W (c.598C>T, rs28940298) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/vhl/variants/r200w
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