Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV001089615 | SCV001245091 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia | 2018-06-07 | criteria provided, single submitter | research | RYR2 Gln3727Arg has not been previously reported and is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a proband diagnosed with CPVT who has a family history of cardiac arrests and sudden death (segregation not possible). In silico tools SIFT, PolyPhen2 and MutationTaster all predict it to be deleterious, furthermore the ExAC missense constraint score (Z score= 5.21, http://exac.broadinstitute.org/) suggests that RYR2 missense variants are rare and likely to be a cause of disease. In summary, the variant is rare (PM2), mutliple in silico tools predict it to be deleterious (PP3) and RYR2 has low rate of missense variants which are likely to be a mechanism of disease (PP2), therefore we classify this as a variant of 'uncertain significance'. |
Fulgent Genetics, |
RCV002482160 | SCV002790425 | uncertain significance | Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 2021-09-09 | criteria provided, single submitter | clinical testing |