ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10033del (p.Arg3345fs)

gnomAD frequency: 0.00001  dbSNP: rs1060503778
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002525629 SCV000554070 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2023-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3345Glyfs*12) in the RYR2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RYR2 cause disease. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RYR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 412517). 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.
GeneDx RCV001549956 SCV001770199 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID 412517; Landrum et al., 2016)
AiLife Diagnostics, AiLife Diagnostics RCV001549956 SCV002501014 uncertain significance not provided 2021-12-30 criteria provided, single submitter clinical testing

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