Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000822162 | SCV000962953 | uncertain significance | Hypertrophic cardiomyopathy | 2018-07-18 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the TNNI3 gene (p.Ala163Leufs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acids of the TNNI3 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TNNI3-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TNNI3 cause disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. |