ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2306G>T (p.Arg769Leu)

dbSNP: rs754901791
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia 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, Children's Hospital of Philadelphia 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, Children's Hospital of Philadelphia RCV000477942 SCV000536705 uncertain significance Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1 2014-12-19 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.