ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu)

gnomAD frequency: 0.00002  dbSNP: rs962100875
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003525945 SCV000825620 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-07-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493209 SCV002780998 uncertain significance Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2021-10-20 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003227834 SCV003924148 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2021-03-30 criteria provided, single submitter clinical testing RYR2 NM_001035.2 exon 31 p.Gln1293Glu (c.3877C>G): This variant has not been reported in the literature but is present in 2/23972 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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