ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7025G>A (p.Gly2342Glu)

dbSNP: rs794728751
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182753 SCV000235138 uncertain significance not provided 2020-10-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); 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); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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