VHL S65A (c.193T>G)

CI-VAR-00004092Explore in graph →NP_000542.1:p.Ser65AlaNM_000551.3:c.193T>GClinVar 223160 CIViC 2011 rs869025616

Curated evidence

Evidence by cancer (5 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 1–5 of 5 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 Disease5unmapped disease
VHL S65A (c.193T>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5413 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 S65A (c.193T>G)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8471 A 9 year-old boy was admitted to the hospital with generalized seisures and marked hypertension (110 bpm). Echocardiography showed muscular hypertrophy of the left ventricle and a radiograph of the th… (full text at CIViC) PMID 11990703 · Reichardt et al., 2002 · Open in CIViC	civic

ClinVar

Clinical significance (1)

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

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
223160	Likely pathogenic	no assertion criteria provided	0	Von Hippel-Lindau syndrome; Pheochromocytoma	germline/somatic	2	Feb 26, 2016	clinvar