VHL N90I (c.269A>T)

CI-VAR-00002974Explore in graph →NP_000542.1:p.Asn90IleNM_000551.3:c.269A>TClinVar 223172 CIViC 2149 rs143985153

Curated evidence

Evidence by cancer (11 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 1–11 of 11 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
Kidney Carcinoma1
VHL N90I (c.269A>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6897 Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC	civic
Von Hippel-Lindau Disease10unmapped disease
VHL N90I (c.269A>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5770 Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This missense mutation was found in a family of 6 individuals. Four family members had hemang… (full text at CIViC) PMID ·

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
223172	Likely pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome	germline	2	Oct 09, 2020	clinvar