ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11447G>A (p.Gly3816Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003389380 SCV004101529 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 criteria provided, single submitter clinical testing The missense variant p.G3816D in RYR2 (NM_001035.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. is novel (not in any individuals) in gnomAD ExomesThe p.G3816D variant is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between glycine and aspartic acid. The p.G3816D missense variant is predicted to be damaging by both SIFT and PolyPhen2. The glycine residue at codon 3816 of RYR2 is conserved in all mammalian species. The nucleotide c.11447 in RYR2 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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