ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) (rs397516524)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251649 SCV000319635 likely benign Cardiovascular phenotype 2015-05-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769782 SCV000901207 uncertain significance Cardiomyopathy 2016-08-16 criteria provided, single submitter clinical testing
Color RCV000769782 SCV000904649 likely benign Cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000036725 SCV000514436 likely benign not specified 2016-02-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000473996 SCV000541683 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2018-11-02 criteria provided, single submitter clinical testing This sequence change affects codon 1051 of the RYR2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RYR2 protein. This variant is present in population databases (rs397516524, ExAC 0.04%) but has not been reported in the literature in individuals with a RYR2-related disease. ClinVar contains an entry for this variant (Variation ID: 43766). Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036725 SCV000060380 likely benign not specified 2012-07-27 criteria provided, single submitter clinical testing Arg1051Arg in exon 27 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. Arg1051Arg in exon 27 of RYR2 (allele frequ ency = n/a)

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