Submission Details

Submitter:

Classification:
No Known Disease Relationship
GENCC:100008
Gene:
Disease:
arrhythmogenic right ventricular cardiomyopathy
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
07/16/2019
Evidence/Notes:

There is only one case reported of a TNNI3 variant in an ARVC patient (30385303) in a Chinese patient. This proband presented in VT of LBBB superior axis morphology and has TWI in leads V1-V4, meeting ARVC TFC criteria. This variant, however is present in higher than expected prevalence in the East Asian population. Otherwise, in other studies (29709087) of 137 patients sequenced for TNNI3, no pathogenic variants were found. Therefore, there is currently no evidence to suggest a role of TNNI3 in pathogenesis of ARVC.

PubMed IDs:
30385303
Public Report:
Assertion Criteria:
Submitter Submitted Date:
12/05/2025

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