ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys) (rs1553263732)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523571 SCV000619456 likely pathogenic not provided 2017-07-20 criteria provided, single submitter clinical testing This variant was apparently de novo in one individual with CPVT tested at GeneDx. The c.6940_6942delGAGinsAAA variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.6940_6942delGAGinsAAA variant results in an in-frame insertion leading to a non-conservative amino acid substitution of a negatively charged Glutamic acid with a positively charged Lysine at codon 2314, denoted p.Glu2314Lys (E2314K). Furthermore, a missense change resulting in the same amino acid substitution (E2314K) has been observed in an individual with CPVT tested at GeneDx. Lastly, this variant is 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).

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