ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.995G>A (p.Arg332Gln)

gnomAD frequency: 0.00001  dbSNP: rs1558793119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002547460 SCV001541565 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2024-11-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 332 of the RYR2 protein (p.Arg332Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with sudden arrhythmic death syndrome and/or suspected catecholaminergic polymorphic ventricular tachycardia (PMID: 28449774, 31112425). ClinVar contains an entry for this variant (Variation ID: 1043236). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RYR2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002486418 SCV002779801 uncertain significance Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2021-10-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005212 SCV004818689 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-03-28 criteria provided, single submitter clinical testing

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