Variant · Snv
TTN NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)
CI-VAR-00008723Explore in graph →p.Ala7015ValNM_001267550.2:c.21044C>TClinVar 46680 rs72648960
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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 46680 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Cardiovascular phenotype; Myopathy, myofibrillar, 9, with early respiratory failure; Tibial muscular dystrophy; Early-onset myopathy with fatal cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Dilated cardiomyopathy 1G; Cardiomyopathy; Colon adenocarcinoma; Ovarian serous cystadenocarcinoma; Malignant tumor of esophagus | germline | 21 | Feb 03, 2026 | clinvar |