VHL S68W (c.203C>G)

CI-VAR-00004105Explore in graph →NP_000542.1:p.Ser68TrpNM_000551.3:c.203C>GCIViC 2012

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL S68W (c.203C>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5414 Peripheral blood from unrelated patients with pheochromocytoma was tested for mutations of proto-oncogene RET, tumor suppressor gene VHL, succinate dehydrogenase subunit D (SDHD) gene, and the succina… (full text at CIViC) PMID 12000816 · Neumann et al., 2002 · Open in CIViC	civic
VHL S68W (c.203C>G)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8402 This study presented a family with S68W (c.203C>G) mutation in VHL gene with variable penetrance. The mutation was identified in 5 family members. II:2 had her pheochromocytoma removed at age 24. By c… (full text at CIViC) PMID 10627136 · Martin et al., 1998 · 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.