ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2301G>T (p.Ser767=) (rs117588730)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618616 SCV000734911 benign Cardiovascular phenotype 2016-06-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769776 SCV000901201 benign Cardiomyopathy 2016-04-26 criteria provided, single submitter clinical testing
Color RCV000769776 SCV000910756 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079378 SCV000111250 benign not specified 2013-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000079378 SCV000171407 benign not specified 2013-10-21 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.
Illumina Clinical Services Laboratory,Illumina RCV000231107 SCV000356245 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383237 SCV000356246 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588457 SCV000697614 benign not provided 2016-11-14 criteria provided, single submitter clinical testing Variant summary: The RYR2 c.2301G>T (p.Ser767Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 306/120764 control chromosomes (7 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.0344308 (297/8626). This frequency is about 1377 times the estimated maximal expected allele frequency of a pathogenic RYR2 variant (0.000025), strong evidence that this is a benign polymorphism found primarily in the populations of East Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000231107 SCV000285712 benign Catecholaminergic polymorphic ventricular tachycardia 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079378 SCV000204494 benign not specified 2013-10-21 criteria provided, single submitter clinical testing Ser767Ser in exon 21 of RYR2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 2.6% (15/572) of Asi an chromosomes by the 1000 Genomes Project (dbSNP rs117588730). Ser767Ser in ex on 21 of RYR2 (rs117588730; allele frequency = 2.6%, 15/572)
PreventionGenetics RCV000079378 SCV000306048 likely benign not specified criteria provided, single submitter clinical testing

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