EP300 NM_001429.4(EP300):c.7177C>G (p.Leu2393Val)

CI-VAR-00195922Explore in graph →p.Leu2393ValNM_001429.4:c.7177C>GClinVar 1145375 rs377508897

Curated evidence

Evidence by cancer (0 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.

Data not yet available

No curated evidence item references this variant yet.

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
1145375	Likely benign	criteria provided, multiple submitters, no conflicts	2	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; EP300-related disorder; Menke-Hennekam syndrome 2; Rubinstein-Taybi syndrome due to CREBBP mutations; Colorectal cancer	germline	5	Aug 04, 2025	clinvar