Submission Details

Submitter:

Classification:
No Known Disease Relationship
GENCC:100008
Gene:
Disease:
hypertrophic cardiomyopathy
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
04/12/2023
Evidence/Notes:

TNNC2 was initially curated at expert request. No convincing evidence for a causal role for TNNC2 in HCM has been reported. Although TNNC2 encodes part of the troponin complex, which has been implicated in HCM, there is no direct evidence for an association between TNNC2 and HCM. There is no convincing case control evidence for an association between TNNC2 and HCM. The mechanism of pathogenicity is unknown. In summary, there is no reported evidence to support this gene-disease association with HCM. This gene-disease pair was originally evaluated by the HCM GCEP on 04/04/2017. It was reevaluated on 04/12/2023 by the HCVD GCEP. As a result of this reevaluation, the classification did not change.

Public Report:
Assertion Criteria:
Submitter Submitted Date:
12/05/2025

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