ClinVar Miner

Submissions for variant NM_001035.2(RYR2):c.8596_8598delGGA (p.Gly2866del) (rs794728836)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182899 SCV000235288 uncertain significance not provided 2014-08-27 criteria provided, single submitter clinical testing c.8596_8598delGGA: p.Gly2866del (G2866del) in exon 59 of the RYR2 gene (NM_001035.2). The normal sequence with the bases that are deleted in braces is AGGA{GGA}AACC. The c.8596_8598delGGA variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.8596_8598delGGA variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This deletion occurs at a position that is conserved across species. However, nearby mutations have not been reported, and this residue does not reside within any of the three mutation hotspots in the RYR2 gene (Medeiros-Domingo A et al., 2009). This in-frame deletion removes one of three contiguous Glycine residues, and in the absence of functional studies, it is unknown whether removal of this Glycine residue is damaging to the protein. Therefore, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in ARRHYTHMIA panel(s).

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