ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6957_6959del (p.Val2321del) (rs794728834)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182897 SCV000235286 likely pathogenic not provided 2013-01-18 criteria provided, single submitter clinical testing c.6957_6959delCGT: p.Val2320del (V2320del) in exon 46 of the RYR2 gene (NM_001035.2). The normal sequence with the bases that are deleted in braces is: ATGT{CGT}GGTG. The c.6957_6959delCGT variant in the RYR2 gene has not been reported as pathogenic or as a benign polymorphism to our knowledge. The c.6957_6959delCGT variant results in an in-frame deletion of a Valine at codon 2320. The c.6957_6959delCGT variant is located in a mutation hotspot" domain in the RYR2 gene, and variants in nearby residues (Val2321Met, Pro2328Ser) have been reported in association with CPVT, further supporting the functional importance of this region of the protein (Medeiros-Domingo A et al., 2009). Other in-frame deletions and insertions have been reported in the RYR2 gene in association with CPVT. In summary, while c.6957_6959delCGT is a good candidate for a pathogenic variant, with the clinical and molecular information available at this time we cannot unequivocally determine the clinical significance of this variant."

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