CTPS1 NM_001905.4(CTPS1):c.1692-1G>C

CI-VAR-00022593Explore in graph →NM_001905.4:c.1692-1G>CClinVar 140454 rs145092287

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
140454	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Combined immunodeficiency due to CTPS1 deficiency; Papillary renal cell carcinoma type 1; Ovarian serous cystadenocarcinoma; CTPS1-related disorder	germline	10	Sep 25, 2025	clinvar