VHL D198fs (c.592_593delCT)

CI-VAR-00000451Explore in graph →NP_000542.1:p.Leu198GlyfsTer?NM_000551.3:c.592_593delCTCIViC 2126

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 D198fs (c.592_593delCT)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5721 A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. This mutation was found in a VHL patient with hema… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC	civic

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.