TTN NM_001267550.2(TTN):c.51684G>A (p.Ala17228=)

CI-VAR-00008731Explore in graph →p.Ala17228=NM_001267550.2:c.51684G>AClinVar 47056 rs2288566

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
47056	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Cardiovascular phenotype; Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy; Tibial muscular dystrophy; Colon adenocarcinoma; Clear cell carcinoma of kidney; Melanoma	germline	18	Feb 04, 2026	clinvar