ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6504C>G (p.His2168Gln) (rs760237464)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430239 SCV000520772 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the RYR2 gene. The H2168Q variant has been published in two patients with CPVT (Medeiros-Domingo et al., 2009); however, additional clinical information and functional studies were not included. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The H2168Q variant 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 in silico analysis suggests that this variant is probably damaging to the protein structure/function. Nevertheless, the H2168Q variant is not 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).

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