ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.535G>A (p.Asp179Asn) (rs794728709)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182661 SCV000235039 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing A novel variant of uncertain significance has been identified in the RYR2 gene. The D179N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. D179N is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species and 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). Consequently, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, additional evidence such as segregation and functional data is necessary to fully assess the pathogenicity of this variant.

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