VHL Splice Site (c.341-2A>G)

CI-VAR-00004228Explore in graph →NP_000542.1:p.?NM_000551.3:c.341-2A>GClinVar 223194 CIViC 2504 rs869025637

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 Splice Site (c.341-2A>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID6762 150 index patients with pheochromocytoma/paraganglioma were evaluated. Phenotypic data were collected and germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested. A… (full text at CIViC) PMID 27539324 · Pandit et al., 2016 · Open in CIViC	civic
VHL Splice Site (c.341-2A>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID9383 A cohort of VHL patients from the Greater Toronto Area in Canada were retrospectively reviewed. Patient ID 23 was found with this germline mutation and CNS hemangioblastoma and retinal capillary heman… (full text at CIViC) PMID 31368132 · Salama et al., 2019 · Open in 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
223194	Pathogenic	reviewed by expert panel	3	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	4	Jun 25, 2024	clinvar