ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11222T>C (p.Leu3741Pro)

dbSNP: rs794728772
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182793 SCV000235179 uncertain significance not provided 2023-06-14 criteria provided, single submitter clinical testing Identified in a family with CPVT that was referred for genetic testing at GeneDx and subsequently reported in published literature (Preininger et al., 2016); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; 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); This variant is associated with the following publications: (PMID: 27491078, 29760739, 30205876, 19926015)

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