Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV000584816 | SCV000692520 | uncertain significance | Brugada syndrome | 2020-04-07 | no assertion criteria provided | research | The RYR2 Asp1412Gly is a novel variant. It is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified the RYR2 Asp1412Gly variant in a proband presenting with cardiac arrest, who was subsequently diagnosed with Brugada Syndrome (type 1 ECG). The proband has no family history of disease or SCD. Computational tools SIFT and MutationTaster predict this variant to be "deleterious" and "disease-causing" respectively, however PolyPhen-2 predicts the variant to be "benign". Based on the limited information available and rarity in general populations, we classify RYR2 Asp1412Gly as a variant of "uncertain significance". |