Variant · Snv
TTN NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)
CI-VAR-00031739Explore in graph →p.Ser23128TyrNM_001267550.2:c.69383C>AClinVar 196056 rs72646882
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 |
|---|---|---|---|---|---|---|---|---|
| 196056 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Cardiovascular phenotype; Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Early-onset myopathy with fatal cardiomyopathy; Myopathy, myofibrillar, 9, with early respiratory failure; Cardiomyopathy; Clear cell carcinoma of kidney; Sarcoma; Lung cancer; Uterine corpus endometrial carcinoma | germline | 13 | Feb 03, 2026 | clinvar |