ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12455T>A (p.Ile4152Asn)

dbSNP: rs1695358851
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001089519 SCV001244872 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2019-06-25 criteria provided, single submitter clinical testing
GeneDx RCV001759857 SCV002005119 uncertain significance not provided 2020-11-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; 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 observed in large population cohorts (Lek et al., 2016)

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