ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14465G>A (p.Arg4822His) (rs794728805)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182847 SCV000235235 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing The R4822H variant of uncertain significance in the RYR2 gene has been reported in one individual from a cohort of individuals with CPVT or possible/atypical LQTS (Medeiros-Domingo et al., 2009); however, detailed clinical and segregation information was not provided. The R4822H variant is not observed in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Additionally, R4822H 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 R4822H 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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