ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9568C>T (p.Arg3190Ter)

dbSNP: rs1484075889
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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 RCV002545592 SCV001542881 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2020-02-18 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with epileptic encephalopathy (PMID: 23934111). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RYR2 cause disease. 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. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg3190*) in the RYR2 gene. It is expected to result in an absent or disrupted protein product.
AiLife Diagnostics, AiLife Diagnostics RCV002224075 SCV002502091 uncertain significance not provided 2022-02-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005222 SCV004825516 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-05-16 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 67 of the RYR2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with epileptic encephalopathy (PMID: 23934111). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Clinical relevance of loss-of-function RYR2 truncation variants in autosomal dominant cardiovascular disorders is not clearly established. 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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