VHL Q145H (c.435_436delGC)

CI-VAR-00003492Explore in graph →NP_000542.1:p.Gln145HisfsNM_000551.3:c.435_436delGCClinVar 223210 CIViC 1781 rs869025652

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL Q145H (c.435_436delGC)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID4948 Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · 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
223210	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	3	Oct 03, 2023	clinvar