VHL D126Y (c.376G>T)

CI-VAR-00000418Explore in graph →NP_000542.1:p.Asp126TyrNM_000551.3:c.376G>TClinVar 2230 CIViC 2053 rs104893831

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 D126Y (c.376G>T)	(predisposing)	Predisposing	C	Supports Predisposition	1	submitted	EID5536 Eight children with a history of polycythemia and elevated serum erythropoietin level were evaluated. Three germline mutations were identified in 4 patients while, mutations were not detected for othe… (full text at CIViC) PMID 12393546 · Pastore et al., 2003 · 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
2230	Likely pathogenic	criteria provided, single submitter	1	Chuvash polycythemia; Von Hippel-Lindau syndrome	germline	2	Jan 13, 2025	clinvar