ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val) (rs1085307524)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489541 SCV000576641 uncertain significance not provided 2017-04-24 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the RYR2 gene. The I4857V variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species and in silico analysis suggests that this variant is probably damaging to the protein structure/function. Additionally, the I4857V variant is 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). However, the I4857V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.

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