VHL R79C (c.235C>T)

CI-VAR-00003899Explore in graph →NP_000542.1:p.Arg79CysNM_000551.3:c.235C>TClinVar 171079 CIViC 2175

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 R79C (c.235C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5852 Case report of 5 Caucasian patients with mutations in the VHL gene and polycythemia. Patient 1 described here was a compound heterozygote with the above mutation and L188V (c.562C>G). ACMG evidence co… (full text at CIViC) PMID 15642680 · Bento et al., 2005 · Open in CIViC	civic
VHL R79C (c.235C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID11024 Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient was found with this mutation in the VHL gene c.235C>T, p.Arg79Cys (stated as c.235 CAG-TAG in the pa… (full text at CIViC) PMID 24132471 · Kruizinga et al., 2014 · Open in CIViC

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.