VHL M1? (c.3G>A)

CI-VAR-00002566Explore in graph →NP_000542.1:p.0NM_000551.3:c.3G>AClinVar 135406 CIViC 848 rs578091032

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 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
Clear Cell Renal Cell Carcinoma1
VHL M1? (c.3G>A)	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	accepted	EID1947 Mutation detected in one case. Case shows clear-cell renal cell carcinoma. This case also harbored a second somatic variant in VHL: 209-210delAG (Stop130). PMID 11505222 · Gallou et al., 2001 · Open in CIViC	civic
Von Hippel-Lindau Disease1unmapped disease
VHL M1? (c.3G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID7717 Out of 48 Danish families presenting with renal cell carcinoma, one patient was found to harbour the germline c.3G>A mutation in VHL. The mutation was evaluated from peripheral blood or healthy tissue… (full text at CIViC) PMID 31034483 · Christensen et al., 2019 ·

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
135406	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Pheochromocytoma; Nonpapillary renal cell carcinoma	germline	14	Jan 05, 2026	clinvar