ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg)

gnomAD frequency: 0.00001  dbSNP: rs397516506
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036665 SCV000060320 uncertain significance not specified 2012-04-17 criteria provided, single submitter clinical testing The Gln388Arg variant (RYR2) has not been reported in the literature nor previou sly identified by our laboratory. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is need ed to fully assess the clinical significance of the Gln388Arg variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002513400 SCV002235908 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482979 SCV002790352 uncertain significance Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2021-09-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996243 SCV004833758 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2024-08-23 criteria provided, single submitter clinical testing This missense variant replaces glutamine with arginine at codon 388 of the RYR2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RYR2-related disorders in the literature. This variant has been identified in 2/208558 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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