ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7807G>A (p.Ala2603Thr)

gnomAD frequency: 0.00001  dbSNP: rs59331340
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171680 SCV000055286 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV001179789 SCV001344566 likely benign Cardiomyopathy 2019-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000171680 SCV002007816 uncertain significance not provided 2022-01-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter 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); Reported in ClinVar (ClinVar Variant ID#191485; ClinVar)
Invitae RCV002515250 SCV002123409 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-07-25 criteria provided, single submitter clinical testing

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