Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV000584759 | SCV000692518 | uncertain significance | Hypertrophic cardiomyopathy | 2018-11-27 | criteria provided, single submitter | research | The TNNI3 550-1G>A is a novel splice acceptor variant. It is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified the variant in a HCM proband with a family history of HCM. Splice predicition tools MaxEntScan and AdaBoost predict that this variant results in aberrant splicing, however loss of function has not been established as a mechanism of disease in TNNI3, therefore we classify this as a variant of "uncertain significance". |