ClinGen Dosage Sensitivity Curation Page

TNNT2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Only missense mutations have been described in patients with Dilated cardiomyopathy (PMID:21483645, 20978592, 19666196, 24093860, 25110706). It is unknown if haploinsufficiency results in a phenotype. In 19666196, MLPA was used to screen TNNT2 for large rearrangements and none were found. There are a few isolated reports of splice site mutations and stop mutations but pathogenicity remains unproven.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity