ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3449A>G (p.Glu1150Gly) (rs754335935)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489730 SCV000576564 uncertain significance not provided 2017-04-27 criteria provided, single submitter clinical testing The E1150G variant has not been published as pathogenic or been reported as benign to our knowledge. The E1150G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E1150G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, this variant has not been identified in a significant number of affected individuals, and there are no functional studies or segregation data available to clarify the role of this variant in disease. Additionally, the E1150G variant is not located in one of the three hot-spot regions of the RYR2 gene, where the majority of pathogenic missense mutations occur (Medeiros-Domingo et al., 2009).

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