ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1811A>G (p.His604Arg) (rs1553470886)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523923 SCV000618935 uncertain significance not provided 2018-10-02 criteria provided, single submitter clinical testing The H604R variant in the RYR2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H604R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The H604R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret H604R as a variant of uncertain significance

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