CEP290 NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)

CI-VAR-00049699Explore in graph →p.Asp2039GlyNM_025114.4:c.6116A>GClinVar 283803 rs192259143

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
283803	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Bardet-Biedl syndrome 14; Leber congenital amaurosis 10; Joubert syndrome 5; Senior-Loken syndrome 6; Meckel syndrome, type 4; Meckel-Gruber syndrome; Joubert syndrome; Nephronophthisis; Intellectual disability; Leber congenital amaurosis; Retinal dystrophy; CEP290-related disorder; Familial cancer of breast; Clear cell carcinoma of kidney; Thyroid cancer, nonmedullary, 1	germline	17	Jun 08, 2026	clinvar