Variant · Snv
ITSN1 NM_003024.3(ITSN1):c.2079C>T (p.Gly693=)
CI-VAR-00306274Explore in graph →p.Gly693=NM_003024.3:c.2079C>TClinVar 2652632 rs138849968
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.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 2652632 | Benign | criteria provided, single submitter | 1 | ITSN1-related disorder; Colorectal cancer; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1; Hepatocellular carcinoma; Familial cancer of breast | germline | 3 | Jun 01, 2026 | clinvar |