ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8209-7_8209-4del

dbSNP: rs876657992
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Total submissions: 5
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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 RCV000216030 SCV000272397 uncertain significance not specified 2016-03-18 criteria provided, single submitter clinical testing The c.8209-7_8209-4delTTTT variant in RYR2 has not been previously reported in i ndividuals with cardiomyopathy. Data from large population studies is insuffici ent to assess the frequency of this variant. This deletion is located in the 3' splice region. Computational tools suggest some impact to splicing. However, thi s information is not predictive enough to determine pathogenicity. In summary, t he clinical significance of the c.8209-7_8209-4delTTTT variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002518199 SCV000637619 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183478 SCV001349220 likely benign Cardiomyopathy 2019-04-01 criteria provided, single submitter clinical testing
GeneDx RCV001775677 SCV002013701 uncertain significance not provided 2021-05-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 229224; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Not located in one of the three hot-spot regions of the RYR2 gene, where the majority of pathogenic missense variants occur (Medeiros-Domingo et al., 2009)
All of Us Research Program, National Institutes of Health RCV004804859 SCV005427961 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-08-13 criteria provided, single submitter clinical testing

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