OMIA:002331-9615 : Cardiomyopathy, TNNI3-related in Canis lupus familiaris (dog) |
In other species: rabbit
Categories: Cardiovascular system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613286 (trait) , 115210 (trait) , 613690 (trait) , 611880 (trait) , 191044 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2025
Molecular basis: Rivas et al. (2025) investigated hypertrophic cardiomyopathy in Golden Retrievers after "sudden cardiac death of 3 related puppies <2 years of age from 2 dam-offspring repeat matings. ... Whole-genome sequencing "identified a single segregating c.593C>T missense variant in TNNI3 (Cardiac Troponin-I) [omia.variant:1918]. This variant was not observed in the unphenotyped (n=2771) nor in the phenotyped, unrelated cohort of dogs (n=45)."
Breed:
Golden Retriever (Dog) (VBO_0200610).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TNNI3 | troponin I3, cardiac type | Canis lupus familiaris | 1 | NC_051805.1 (103128720..103131893) | TNNI3 | Ensembl, NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1918 | Golden Retriever (Dog) | Cardiomyopathy, hypertrophic, TNN13-related | TNNI3 | substitution | missense | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | 1 | NC_049222.1:g.103244333C>T | NM_001003041.1:c.593C>T | NP_001003041.1:p.(A198V) | 2025 | 40843498 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:002331-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Rivas, V.N., Goldsmith, D.A., Vandewege, M.W., Li, R.H.L., Losa, S.M., Leber, M., Sitthicharoenchai, P., Hawkes, K., Davies, J.L., Legge, C., Revell, S., Stern, J.A. : |
| Novel cardiac troponin-I missense variant (c.593C>T) is associated with familial hypertrophic cardiomyopathy in Golden Retrievers. Circ Genom Precis Med 18:e005096, 2025. Pubmed reference: 40843498. DOI: 10.1161/CIRCGEN.125.005096. |
Edit History
- Created by Imke Tammen on 18 Aug 2026
- Changed by Imke Tammen on 18 Aug 2026