ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11180A>G (p.Gln3727Arg)

dbSNP: rs1692948853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV001089615 SCV001245091 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2018-06-07 criteria provided, single submitter research RYR2 Gln3727Arg has not been previously reported and is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a proband diagnosed with CPVT who has a family history of cardiac arrests and sudden death (segregation not possible). In silico tools SIFT, PolyPhen2 and MutationTaster all predict it to be deleterious, furthermore the ExAC missense constraint score (Z score= 5.21, http://exac.broadinstitute.org/) suggests that RYR2 missense variants are rare and likely to be a cause of disease. In summary, the variant is rare (PM2), mutliple in silico tools predict it to be deleterious (PP3) and RYR2 has low rate of missense variants which are likely to be a mechanism of disease (PP2), therefore we classify this as a variant of 'uncertain significance'.
Fulgent Genetics, Fulgent Genetics RCV002482160 SCV002790425 uncertain significance Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2021-09-09 criteria provided, single submitter clinical testing

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