CSPP1 NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln)

CI-VAR-00160598Explore in graph →p.Arg396GlnNM_001382391.1:c.1187G>AClinVar 949594 rs760205035

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
949594	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Joubert syndrome 21; Inborn genetic diseases; Uveal melanoma; CSPP1-related disorder	germline	4	Apr 24, 2025	clinvar