TTN NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)

CI-VAR-00008730Explore in graph →p.Ala15200GlyNM_001267550.2:c.45599C>GClinVar 46991 rs201057307

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
46991	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Tibial muscular dystrophy; Early-onset myopathy with fatal cardiomyopathy; Myopathy, myofibrillar, 9, with early respiratory failure; Cardiovascular phenotype; Autosomal recessive limb-girdle muscular dystrophy type 2J; Dilated cardiomyopathy 1G; Cardiomyopathy; TTN-related disorder; Thyroid cancer, nonmedullary, 1; Cervical cancer	germline	18	Jun 01, 2026	clinvar