VHL A149T (c.445G>A)

CI-VAR-00000064Explore in graph →NP_000542.1:p.Ala149ThrNM_000551.3:c.445G>AClinVar 223213 CIViC 1744 rs587780077

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 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 Disease3unmapped disease
VHL A149T (c.445G>A)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID4909 In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC	civic
VHL A149T (c.445G>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6875 Medical records of 26 patients with germline mutations of the VHL gene who had been diagnosed with VHL disease in Severance Hospital (Seoul, Republic of Korea) and Samsung Medical Center (Seoul, Repub… (full text at CIViC) PMID 25078357 · Hwang et al., 2014 · 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
223213	Pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome	germline	2	Jan 30, 2017	clinvar