ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val)

gnomAD frequency: 0.00002  dbSNP: rs370141970
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182773 SCV000235159 uncertain significance not provided 2013-01-16 criteria provided, single submitter clinical testing p.Ile3029Val (ATT>GTT): c.9085 A>G in exon 64 of the RYR2 gene (NM_001035.2). The Ile3029Val variant in the RYR2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Ile3029Val results in a conservative amino acid substitution of one non-polar amino acid with another at a position that is conserved across species. The Ile3029Val variant was not observed with any significant frequency in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. However, in silico analysis predicts Ile3029Val is benign to the protein structure/function. Also, no mutations in nearby codons have been reported in association with CPVT, and Ile3029Val does not occur in one of the mutation hotspot regions of the RYR2 gene (Medeiros-Domingo A et al., 2009). We cannot definitively determine if Ile3029Val is a disease-causing mutation or a rare benign variant. The variant is found in CPVT panel(s).
Illumina Laboratory Services, Illumina RCV000393089 SCV000356375 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000314238 SCV000356376 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517797 SCV000760630 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001192120 SCV001360099 likely benign Cardiomyopathy 2018-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165392 SCV003858426 uncertain significance Cardiovascular phenotype 2023-01-17 criteria provided, single submitter clinical testing The p.I3029V variant (also known as c.9085A>G), located in coding exon 64 of the RYR2 gene, results from an A to G substitution at nucleotide position 9085. The isoleucine at codon 3029 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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