VHL Splice Region (c.463+8C>T)

CI-VAR-00004173Explore in graph →NM_000551.3:c.463+8C>TClinVar 127830 CIViC 2292 rs5030834

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 2 cancer contexts 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
Adrenal Gland Pheochromocytoma1
VHL Splice Region (c.463+8C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	accepted	EID6108 Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This splice variant causes a premature stop codon at amino acid 66… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC	civic
Von Hippel-Lindau Disease2unmapped disease
VHL Splice Region (c.463+8C>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5439 43 unrelated VHL patients with previously sequenced VHL germline mutations and 36 suspected VHL mutation carriers were subject to denaturing high performance liquid chromatography (DHPLC) mutation scr… (full text at 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
127830	Benign	reviewed by expert panel	3	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia	germline	26	Jun 25, 2024	clinvar