ClinVar Miner

Submissions for variant NM_001035.2(RYR2):c.9450-3T>C (rs188671846)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621928 SCV000735511 uncertain significance Cardiovascular phenotype 2016-08-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000036805 SCV000514451 benign not specified 2015-03-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000475079 SCV000541649 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2017-11-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036805 SCV000060460 uncertain significance not specified 2013-02-27 criteria provided, single submitter clinical testing The 9450-3T>C variant in RYR2 has not been reported in the literature but has been previously identified in one Caucasian individual with DCM by our laboratory. This variant has been identified in 1/28 Iberian chromosomes from a broad population by the 1000 Genomes project (dbSNP rs188671846), though this may be a presymptomatic individual. In addition, this variant is located in the 3' splice region but computational tools do not suggest an impact to splicing. Additional information is needed to fully assess the clinical significance of this variant.

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