Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV000853456 | SCV000996367 | uncertain significance | Primary dilated cardiomyopathy | 2017-11-20 | criteria provided, single submitter | research | The TTN c.63302-1G>C variant has not been reported previously and is absent from the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), as well as the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a proband with dilated cardiomyopathy and a family history of disease however, segregation was not possible. In silico tools SpliceSiteFinder-like, MaxEntScan, NNSPLICE, and Human Splicing Finder all predict that this variant will cause aberrant splicing. In summary, the variant is rare in the general population and multiple In silico tools predict that it will result in abnormal splicing, therefore we classify TTN c.63302-1G>C as a variant of 'uncertain significance'. |