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Gene | VHL |
Variant | P192S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | VHL P192S does not lie within any known functional domains of the Vhl protein (UniProt.org). P192S has been identified in the scientific literature (PMID: 18836774, PMID: 26957611), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
VHL mutant VHL P192S |
Transcript | NM_000551.4 |
gDNA | chr3:g.10149897C>T |
cDNA | c.574C>T |
Protein | p.P192S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551 | chr3:g.10149897C>T | c.574C>T | p.P192S | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.10149897C>T | c.574C>T | p.P192S | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.10149897C>T | c.574C>T | p.P192S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
VHL mutant | islet cell tumor | sensitive | Belzutifan | Guideline | Actionable | Welireg (belzutifan) is included in guidelines for patients with well-differentiated Grade 1/2 progressive pancreatic neuroendocrine tumors harboring germline VHL mutations (NCCN.org). | detail... |
VHL mutant | renal cell carcinoma | no benefit | Unspecified VEGFR inhibitor | Clinical Study - Meta-analysis | Actionable | In a meta-analysis of 6 clinical studies, VHL mutation status was not associated with overall response rate (relative risk=1.47, p=0.20), progression-free survival (HR=1.02, p=0.91), or overall survival (HR=0.80, p=0.21) in a total of 633 patients with renal cell carcinoma who received anti-VEGF therapies (PMID: 28103578). | 28103578 |
VHL mutant | renal cell carcinoma | sensitive | Everolimus | Phase I | Actionable | In a Phase I study, Afinitor (everolimus), as compared to Apitolisib (GDC-0980), resulted in a greater progression free survival and overall survival in patients with renal cell carcinoma harboring VHL mutations (J Clin Oncol 32:5s, 2014 (suppl; abstr 4525)). | detail... |
VHL mutant | renal cell carcinoma | predicted - sensitive | Sunitinib | Phase I | Actionable | In a Phase I trial, 33% (6/18) of renal cell carcinoma patients harboring a VHL mutation, as determined from archived patient specimens, demonstrated a partial response when treated with Sutent (sunitinib) (PMID: 22105611). | 22105611 |