VHL I75del (c.221delTCA)

CI-VAR-00002023Explore in graph →CIViC 2487

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 I75del (c.221delTCA)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID6721 A patient, CS, presented with a renal cell carcinoma. They underwent genetic testing and were found to have a mutation in the VHL gene, c.221del3bp. This frameshift mutation presumably I75. Family his… (full text at CIViC) PMID 8493574 · Latif et al., 1993 · 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.