Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Division of Human Genetics, |
RCV000185547 | SCV000238429 | uncertain significance | Arrhythmogenic right ventricular dysplasia 2 | 2014-12-19 | no assertion criteria provided | research | The heterozygous variant in the RYR2 gene (c.2306G>T; p.Arg769Leu) has not been seen before but it is not seen in the ExAC database and the type of mutation corresponds with what has been previously published for this gene, both the amino acid and the nucleotide positions are highly conserved and in a functional domain (B30.2/SPRY 1, according to UniProt). Also the amino acid change is non-conservative. |
Division of Human Genetics, |
RCV000185548 | SCV000238430 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2014-12-19 | no assertion criteria provided | research | The heterozygous variant in the RYR2 gene (c.2306G>T; p.Arg769Leu) has not been seen before but it is not seen in the ExAC database and the type of mutation corresponds with what has been previously published for this gene, both the amino acid and the nucleotide positions are highly conserved and in a functional domain (B30.2/SPRY 1, according to UniProt). Also the amino acid change is non-conservative. |
Division of Human Genetics, |
RCV000477942 | SCV000536705 | uncertain significance | Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1 | 2014-12-19 | no assertion criteria provided | research |