Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV000999589 | SCV001156291 | uncertain significance | Hypertrophic cardiomyopathy | 2018-10-11 | criteria provided, single submitter | research | TTN Ser2859Leu has not been previously reported and is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in HCM proband with no family history of disease. In silico tool, SIFT predicts this variant to be deleterious, but MutationTaster and PolyPhen2 predicts it to be benign. Based on this information we classify this as a variant of 'uncertain significance'. |