Variant · Snv
TTN NM_001267550.2(TTN):c.54812-5A>G
CI-VAR-00025736Explore in graph →NM_001267550.2:c.54812-5A>GClinVar 165974 rs375343798
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 |
|---|---|---|---|---|---|---|---|---|
| 165974 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Autosomal recessive limb-girdle muscular dystrophy type 2J; Dilated cardiomyopathy 1G; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Cardiovascular phenotype; Cardiomyopathy; Uterine carcinosarcoma; Ovarian serous cystadenocarcinoma | germline | 15 | Feb 01, 2026 | clinvar |