VHL S68P (c.202T>C)

CI-VAR-00004104Explore in graph →NP_000542.1:p.Ser68ProNM_000551.3:c.202T>CCIViC 1873

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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 Disease4unmapped disease
VHL S68P (c.202T>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5105 Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, resulted in the detection of 43 germline VHL mutations. Majority of mutations were found in patients … (full text at CIViC) PMID 17661816 · Hes et al., 2007 · Open in CIViC	civic
VHL S68P (c.202T>C)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8420 The 29 year old proband presented with history of RCC in the left kidney where no CNS involvement was not detected. Citritis was detected in the right eye on slit-lamp biomicroscopy. OCT showed that t… (full text at CIViC) PMID 27785399 · Kinyas et al., 2015 · Open in CIViC	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.