ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10155A>G (p.Leu3385=) (rs543120030)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602387 SCV000728503 likely benign not specified 2017-05-11 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 RCV000639179 SCV000760746 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000602387 SCV000858993 likely benign not specified 2018-01-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768785 SCV000900155 benign Cardiomyopathy 2016-08-25 criteria provided, single submitter clinical testing
Color RCV000768785 SCV000903817 benign Cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000602387 SCV001362143 benign not specified 2019-01-28 criteria provided, single submitter clinical testing Variant summary: RYR2 c.10155A>G results in a synonymous change. The variant allele was found at a frequency of 0.0006 in 274638 control chromosomes in the gnomAD database, including 1 homozygotes. The observed variant frequency is approximately 24 fold of the estimated maximal expected allele frequency for a pathogenic variant in RYR2 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.10155A>G in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.

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