ClinVar Miner

Submissions for variant NM_001035.2(RYR2):c.(?_169)_(273_?)del

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Total submissions: 1
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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 RCV000222648 SCV000271262 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2015-10-12 criteria provided, single submitter clinical testing The c.(?_169)_(273_?)del variant in RYR2 results in a deletion of exon 3, which has been reported in >10 individuals with CPVT +/- LVNC, segregated with disease in >20 affected relatives from 5 families, and occurred de novo in 1 individual (Bhuiyan 2007, Medeiros-Domingo 2009, Marjamaa 2009, Szentpali 2013, Ohno 2014, Campbell 2015, Leong 2015). However, its frequency in healthy controls or the g eneral population is not available. In summary, this variant is very likely path ogenic, but the frequency information for controls is needed to determine this w ith certainty.

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