ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser) (rs777365708)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000241874 SCV000319573 uncertain significance Cardiovascular phenotype 2017-07-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000523894 SCV000616858 uncertain significance not provided 2017-09-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the RYR2 gene. The G2094S variant has not been published as pathogenic or been reported as benign to our knowledge. The G2094S variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G2094S 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 most species with serine (S) being present as the wild type in at least one species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.
Illumina Clinical Services Laboratory,Illumina RCV000351653 SCV000356331 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391795 SCV000356332 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing

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